#ClinGen Gene Curation Results #20 Mar,2026 #Genomic Locations are reported on GRCh37 (hg19): GCF_000001405.13 #https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen #to create link: https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=Gene Symbol #Gene Symbol Gene ID cytoBand Genomic Location Haploinsufficiency Score Haploinsufficiency Description Haploinsufficiency PMID1 Haploinsufficiency PMID2 Haploinsufficiency PMID3 Haploinsufficiency PMID4 Haploinsufficiency PMID5 Haploinsufficiency PMID6 Triplosensitivity Score Triplosensitivity Description Triplosensitivity PMID1 Triplosensitivity PMID2 Triplosensitivity PMID3 Triplosensitivity PMID4 Triplosensitivity PMID5 Triplosensitivity PMID6 Date Last Evaluated Haploinsufficiency Disease ID Triplosensitivity Disease ID A4GALT 53947 22q13.2 chr22:43088127-43117307 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-12-11 AAGAB 79719 15q23 chr15:67493005-67547536 3 Sufficient evidence for dosage pathogenicity 23064416 23000146 0 No evidence available 2013-02-28 MONDO:0007858 AARS1 16 16q22.1 chr16:70286201-70323409 0 No evidence available 0 No evidence available 2018-01-11 AARS2 57505 6p21.1 chr6:44266468-44281084 30 Gene associated with autosomal recessive phenotype 24808023 Not yet evaluated Not yet evaluated 2025-06-27 MONDO:0014387 AASS 10157 7q31.32 chr7:121713603-121784303 30 Gene associated with autosomal recessive phenotype 10775527 23890588 23570448 0 No evidence available 2025-10-08 MONDO:0009388 ABAT 18 16p13.2 chr16:8768474-8878427 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013166 ABCB11 8647 2q31.1 chr2:169777291-169887834 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-07-08 MONDO:0011156 ABCB4 5244 7q21.12 chr7:87031012-87104996 3 Sufficient evidence for dosage pathogenicity 21989363 23684896 25544413 0 No evidence available 2024-04-16 MONDO:0010939 ABCC8 6833 11p15.1 chr11:17414045-17498392 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-02-24 MONDO:0009734 ABCD1 215 Xq28 chrX:152990311-153010209 3 Sufficient evidence for dosage pathogenicity 8040304 23835273 25835712 7825602 0 No evidence available 2020-12-02 MONDO:0018544 ABCG5 64240 2p21 chr2:44039611-44065978 30 Gene associated with autosomal recessive phenotype 11138003 28521186 16029460 17976197 0 No evidence available 2025-09-28 MONDO:0020747 ABCG8 64241 2p21 chr2:44066110-44110127 30 Gene associated with autosomal recessive phenotype 11099417 15210841 16029460 28521186 24166850 32166861 0 No evidence available 2025-02-03 MONDO:0008863 ABHD12 26090 20p11.21 chr20:25275379-25371471 30 Gene associated with autosomal recessive phenotype 25743180 20797687 28448692 22938382 Not yet evaluated Not yet evaluated 2025-07-18 MONDO:0012984 ABR 29 17p13.3 chr17:906759-1133016 0 No evidence available 0 No evidence available 2012-09-05 ABRAXAS1 84142 4q21.23 chr4:84380670-84406253 0 No evidence available 31159747 37198153 29484706 0 No evidence available 2023-07-18 ACADM 34 1p31.1 chr1:76190394-76229364 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008721 ACADSB 36 10q26.13 chr10:124768522-124817806 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012392 ACADVL 37 17p13.1 chr17:7120444-7128585 30 Gene associated with autosomal recessive phenotype 27209629 0 No evidence available 2025-09-26 MONDO:0008723 ACD 65057 16q22.1 chr16:67691415-67694163 0 No evidence available 0 No evidence available 2025-04-24 ACOX1 51 17q25.1 chr17:73937588-73975247 30 Gene associated with autosomal recessive phenotype 33234382 26965209 18536048 17458872 0 No evidence available 2025-12-12 MONDO:0009919 ACP5 54 19p13.2 chr19:11685475-11689790 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011939 ACSF3 197322 16q24.3 chr16:89160260-89222641 30 Gene associated with autosomal recessive phenotype 30740739 26827111 0 No evidence available 2025-10-24 MONDO:0013661 ACSL4 2182 Xq23 chrX:108884564-108976486 1 Little evidence for dosage pathogenicity 11889465 12525535 21584729 31481330 26350204 22581936 0 No evidence available 25956375 2025-06-10 MONDO:0010313 ACTA2 59 10q23.31 chr10:90694831-90751154 1 Little evidence for dosage pathogenicity 32209317 30056620 34498425 0 No evidence available 2022-09-28 MONDO:0019625 ACTB 60 7p22.1 chr7:5566779-5570232 0 No evidence available 29220674 31898838 30315159 29274487 0 No evidence available 2022-02-08 MONDO:0000508 ACTC1 70 15q14 chr15:35082431-35087750 1 Little evidence for dosage pathogenicity 17947298 34495297 32233023 0 No evidence available 2024-09-10 MONDO:0100547 ACTL6B 51412 7q22.1 chr7:100240720-100254071 30 Gene associated with autosomal recessive phenotype 32312822 30656450 31031012 Not yet evaluated Not yet evaluated 2022-11-23 MONDO:0100062 ACVRL1 94 12q13.13 chr12:52301288-52317145 3 Sufficient evidence for dosage pathogenicity 20414677 0 No evidence available 2025-02-11 MONDO:0010880 ADA2 51816 22q11.1 chr22:17659680-17702738 30 Gene associated with autosomal recessive phenotype 35774100 24737293 35852217 0 No evidence available 2025-10-24 MONDO:0014306 ADAMTS13 11093 9q34.2 chr9:136279457-136324508 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010122 ADAMTS17 170691 15q26.3 chr15:100511642-100882180 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013176 ADAMTS18 170692 16q23.1 chr16:77316025-77468931 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014195 ADAMTS2 9509 5q35.3 chr5:178537854-178772462 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009161 ADAMTSL2 9719 9q34.2 chr9:136397286-136440641 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009269 ADGRG1 9289 16q21 chr16:57653650-57699479 30 Gene associated with autosomal recessive phenotype 25642806 23274687 20929962 35186395 15044805 29707406 0 No evidence available 2025-10-24 MONDO:0011738 ADGRV1 84059 5q14.3 chr5:89854614-90460254 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2021-08-23 MONDO:0016484 ADNP 23394 20q13.13 chr20:49505455-49547974 3 Sufficient evidence for dosage pathogenicity 24531329 25533962 0 No evidence available 2017-11-22 MONDO:0014379 ADSL 158 22q13.1 chr22:40742504-40783531 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-11-05 MONDO:0007068 AFF2 2334 Xq28 chrX:147582137-148082193 3 Sufficient evidence for dosage pathogenicity 22065534 21739600 8673085 0 No evidence available 2020-12-08 MONDO:0010659 AGA 175 4q34.3 chr4:178351928-178363591 30 Gene associated with autosomal recessive phenotype 29247835 7627186 1722323 11309371 8830180 0 No evidence available 2026-02-05 MONDO:0008830 AGAP2 116986 12q14.1 chr12:58117544-58135944 0 No evidence available 0 No evidence available 2025-02-26 AGK 55750 7q34 chr7:141251210-141355044 30 Gene associated with autosomal recessive phenotype 22284826 25208612 28868593 0 No evidence available 2025-09-26 MONDO:0044970 AGO4 192670 1p34.3 chr1:36273237-36323491 0 No evidence available 0 No evidence available 2024-10-08 AGPAT2 10555 9q34.3 chr9:139567595-139581909 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012071 AGRN 375790 1p36.33 chr1:955500-991496 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014052 AGT 183 1q42.2 chr1:230838269-230881329 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-11-13 MONDO:0009970 AGTR2 186 Xq23 chrX:115301997-115306227 0 No evidence available 0 No evidence available 2012-05-10 MONDO:0010454 AGXT 189 2q37.3 chr2:241808241-241819917 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009823 AHCY 191 20q11.22 chr20:32868074-32899608 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-06-08 MONDO:0013404 AHDC1 27245 1p36.11-p35.3 chr1:27860756-27930655 3 Sufficient evidence for dosage pathogenicity 24791903 27148574 29230160 0 No evidence available 2018-02-28 MONDO:0014358 AHI1 54806 6q23.3 chr6:135604670-135818878 30 Gene associated with autosomal recessive phenotype 15322546 16453322 0 No evidence available 2025-09-26 MONDO:0012078 AICDA 57379 12p13.31 chr12:8754766-8765455 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011528 AIFM1 9131 Xq26.1 chrX:129263337-129299815 0 No evidence available 28991257 0 No evidence available 2025-04-23 MONDO:0010378 AIMP1 9255 4q24 chr4:107236701-107270613 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009843 AKT1 207 14q32.33 chr14:105235686-105262085 0 No evidence available 0 No evidence available 2022-01-25 AKT2 208 19q13.2 chr19:40736224-40791252 0 No evidence available 0 No evidence available 2015-05-07 AKT3 10000 1q43-q44 chr1:243651535-244014381 1 Little evidence for dosage pathogenicity 21800092 25424989 30091983 0 No evidence available 2023-05-09 MONDO:0001149 ALAD 210 9q32 chr9:116148592-116163564 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013000 ALDH1A3 220 15q26.3 chr15:101420036-101456831 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014050 ALDH3A2 224 17p11.2 chr17:19551449-19580909 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010031 ALDH4A1 8659 1p36.13 chr1:19197924-19229049 30 Gene associated with autosomal recessive phenotype 9700195 31884946 0 No evidence available 2025-11-21 MONDO:0009401 ALDH5A1 7915 6p22.3 chr6:24495197-24537435 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010083 ALDOA 226 16p11.2 chr16:30075600-30081741 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012747 ALG1 56052 16p13.3 chr16:5121844-5137380 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012052 ALG12 79087 22q13.33 chr22:50293877-50312086 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011783 ALG13 79868 Xq23 chrX:110924398-111003877 1 Little evidence for dosage pathogenicity 22492991 33734437 0 No evidence available 2025-04-23 MONDO:0100062 ALG2 85365 9q22.33 chr9:101978707-101984224 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014543 ALG6 29929 1p31.3 chr1:63833298-63904224 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011291 ALK 238 2p23.2-p23.1 chr2:29415640-30144452 0 No evidence available 0 No evidence available 2025-06-23 ALMS1 7840 2p13.1 chr2:73612886-73837046 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008763 ALS2 57679 2q33.1 chr2:202564990-202645656 30 Gene associated with autosomal recessive phenotype 23282280 24562058 33155358 16240357 11586298 0 No evidence available 2026-02-05 MONDO:0100227 ALX4 60529 11p11.2 chr11:44281990-44331689 3 Sufficient evidence for dosage pathogenicity 11137991 11106354 16319823 0 No evidence available 2020-07-22 MONDO:0012309 AMH 268 19p13.3 chr19:2249322-2252072 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009857 AMN 81693 14q32.32 chr14:103389000-103397179 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0100156 ANK2 287 4q25-q26 chr4:113626778-114304892 3 Sufficient evidence for dosage pathogenicity 37195288 22542183 25363768 25363760 28263302 37088467 0 No evidence available 2025-01-14 MONDO:0100038 ANKH 56172 5p15.2 chr5:14704909-14871887 0 No evidence available 11326338 22150416 20186813 23390136 0 No evidence available 2022-02-23 ANKRD11 29123 16q24.3 chr16:89334038-89556969 3 Sufficient evidence for dosage pathogenicity 21782149 35330407 28422132 0 No evidence available 2022-06-14 MONDO:0007846 ANKRD17 26057 4q13.3 chr4:73939093-74124515 3 Sufficient evidence for dosage pathogenicity 33909992 0 No evidence available 2023-04-11 MONDO:0000508 ANKRD26 22852 10p12.1 chr10:27293045-27389423 0 No evidence available 0 No evidence available 2023-10-10 MONDO:0008555 MONDO:0008555 ANKS6 203286 9q22.33 chr9:101494291-101558837 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014158 ANOS1 3730 Xp22.31 chrX:8496915-8700178 3 Sufficient evidence for dosage pathogenicity 28122887 12050219 24232061 21717404 25328414 18463157 0 No evidence available 18657637 2021-05-26 MONDO:0010635 ANTXR2 118429 4q21.21 chr4:80822300-80994626 30 Gene associated with autosomal recessive phenotype 22383261 21328543 12973667 0 No evidence available 2025-11-21 MONDO:0009229 AP1S2 8905 Xp22.2 chrX:15843929-15872936 3 Sufficient evidence for dosage pathogenicity 17186471 17617514 18428203 23756445 30383884 25649377 0 No evidence available 2021-04-28 MONDO:0010574 AP4B1 10717 1p13.2 chr1:114436816-114447650 30 Gene associated with autosomal recessive phenotype 29193663 24781758 21620353 0 No evidence available 2025-11-21 MONDO:0013551 AP4S1 11154 14q12 chr14:31494312-31565656 30 Gene associated with autosomal recessive phenotype 32979048 25552650 21620353 0 No evidence available 2026-02-27 MONDO:0013552 APC 324 5q22.2 chr5:112043195-112181936 3 Sufficient evidence for dosage pathogenicity 1651174 10051640 23159591 0 No evidence available 2021-07-18 MONDO:0021057 APOB 338 2p24.1 chr2:21224301-21266945 3 Sufficient evidence for dosage pathogenicity 27179706 1527480 2843815 0 No evidence available 2020-04-09 MONDO:0014252 APOC2 344 19q13.32 chr19:45449308-45452822 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008810 APP 351 21q21.3 chr21:27252861-27543446 0 No evidence available 1 Little evidence for dosage pathogenicity 16921174 34532568 2025-10-27 MONDO:0015140 AR 367 Xq12 chrX:66763863-66950461 3 Sufficient evidence for dosage pathogenicity 22334387 27994190 30742848 0 No evidence available 2020-12-08 MONDO:0019154 ARCN1 372 11q23.3 chr11:118443124-118473748 3 Sufficient evidence for dosage pathogenicity 27476655 33154040 31075182 35300924 0 No evidence available 2022-05-10 MONDO:0014948 ARFGEF2 10564 20q13.13 chr20:47538248-47653230 30 Gene associated with autosomal recessive phenotype 26126837 19384555 23812912 23755938 25160555 14647276 0 No evidence available 2026-01-23 MONDO:0011966 ARHGAP11B 89839 15q13.2 chr15:30918331-30941432 0 No evidence available 30886340 22346768 0 No evidence available 2023-03-28 ARHGAP31 57514 3q13.32-q13.33 chr3:119013230-119139561 0 No evidence available 0 No evidence available 2023-06-13 ARHGEF4 50649 2q21.1 chr2:131594487-131804826 0 No evidence available 0 No evidence available 2018-04-05 ARHGEF6 9459 Xq26.3 chrX:135747709-135863091 0 No evidence available 0 No evidence available 2012-04-25 ARHGEF9 23229 Xq11.1 chrX:62854847-63005094 3 Sufficient evidence for dosage pathogenicity 18615734 21633362 25898924 28589176 30048823 31942680 0 No evidence available 2021-11-24 MONDO:0100148 ARID1A 8289 1p36.11 chr1:27022506-27108595 3 Sufficient evidence for dosage pathogenicity 22426308 23929686 23906836 0 No evidence available 2020-05-27 MONDO:0013819 ARID1B 57492 6q25.3 chr6:157097160-157531913 3 Sufficient evidence for dosage pathogenicity 22426308 21801163 22405089 22426309 26376624 30349098 0 No evidence available 2021-05-26 MONDO:0007617 ARID2 196528 12q12 chr12:46123489-46301820 3 Sufficient evidence for dosage pathogenicity 29698805 26238514 28124119 0 No evidence available 2019-06-26 MONDO:0033492 ARL6 84100 3q11.2 chr3:97483365-97520086 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010832 ARL6IP1 23204 16p12.3 chr16:18802989-18812871 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014304 ARSD 414 Xp22.33 chrX:2822013-2847380 0 No evidence available 0 No evidence available 2016-07-21 ARX 170302 Xp21.3 chrX:25021811-25034082 3 Sufficient evidence for dosage pathogenicity 12379852 14722918 0 No evidence available 2019-12-05 MONDO:0010268 ASH1L 55870 1q22 chr1:155305059-155532594 3 Sufficient evidence for dosage pathogenicity 28191889 25363760 28263302 0 No evidence available 2017-12-27 MONDO:0100038 ASPA 443 17p13.2 chr17:3377404-3406699 30 Gene associated with autosomal recessive phenotype 8023850 12638939 12638939 0 No evidence available 2026-02-27 MONDO:0010079 ASPH 444 8q12.3 chr8:62413115-62627151 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011106 ASPM 259266 1q31.3 chr1:197053257-197115799 30 Gene associated with autosomal recessive phenotype 15355437 18452193 16141009 12355089 19332161 0 No evidence available 2026-01-23 MONDO:0016660 ASTN2 23245 9q33.1 chr9:119185391-120177335 1 Little evidence for dosage pathogenicity 24381304 32094338 21832240 19809473 18940311 30242134 0 No evidence available 2021-03-09 MONDO:0100038 ASXL1 171023 20q11.21 chr20:30946134-31027122 3 Sufficient evidence for dosage pathogenicity 21706002 22419483 0 No evidence available 2013-03-14 MONDO:0011510 ASXL2 55252 2p23.3 chr2:25956622-26101356 0 No evidence available 0 No evidence available 2018-06-28 ASXL3 80816 18q12.1 chr18:31158183-31331159 3 Sufficient evidence for dosage pathogenicity 23383720 26647312 27901041 0 No evidence available 2017-11-22 MONDO:0014205 ATCAY 85300 19p13.3 chr19:3880683-3928080 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011025 ATF6 22926 1q23.3 chr1:161736110-161933860 30 Gene associated with autosomal recessive phenotype 26029869 26063662 26070061 28041643 0 No evidence available 2026-01-23 MONDO:0014677 ATM 472 11q22.3 chr11:108093794-108239829 3 Sufficient evidence for dosage pathogenicity 3574400 27595995 15928302 0 No evidence available 2020-04-08 MONDO:0008840 ATP10A 57194 15q12 chr15:25923859-26108349 0 No evidence available 0 No evidence available 2012-04-24 ATP2A1 487 16p11.2 chr16:28889809-28915787 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010977 ATP2C2 9914 16q24.1 chr16:84402144-84497793 0 No evidence available 25296922 0 No evidence available 2018-09-17 ATP6AP2 10159 Xp11.4 chrX:40440222-40466100 0 No evidence available 0 No evidence available 2012-10-31 ATP6V0A4 50617 7q34 chr7:138391039-138482941 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011268 ATP6V1E1 529 22q11.21 chr22:18074902-18111588 0 No evidence available 0 No evidence available 2012-04-26 ATP7A 538 Xq21.1 chrX:77166190-77305892 3 Sufficient evidence for dosage pathogenicity 14635105 32994893 0 No evidence available 2021-03-24 MONDO:0010651 ATP7B 540 13q14.3 chr13:52506805-52585586 30 Gene associated with autosomal recessive phenotype 8298639 16635921 9887381 0 No evidence available 2026-02-27 MONDO:0010200 ATP8A2 51761 13q12.13 chr13:25946112-26599989 30 Gene associated with autosomal recessive phenotype 29531481 35321980 31069529 35872528 30012219 0 No evidence available 2023-03-28 MONDO:0014104 ATPAF2 91647 17p11.2 chr17:17921335-17942482 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011421 ATR 545 3q23 chr3:142168077-142297575 1 Little evidence for dosage pathogenicity 30159786 26556299 29439820 0 No evidence available 2020-06-05 MONDO:0013806 ATRX 546 Xq21.1 chrX:76760358-77041702 3 Sufficient evidence for dosage pathogenicity 7697714 0 No evidence available 2012-07-31 MONDO:0010519 AUTS2 26053 7q11.22 chr7:69063461-70258492 3 Sufficient evidence for dosage pathogenicity 22872102 23332918 23650183 0 No evidence available 2020-06-24 MONDO:0014361 AVPR2 554 Xq28 chrX:153168079-153172620 3 Sufficient evidence for dosage pathogenicity 10820168 23150186 29594432 0 No evidence available 2021-02-01 MONDO:0010581 AXIN2 8313 17q24.1 chr17:63524681-63557766 3 Sufficient evidence for dosage pathogenicity 34637023 32807118 30671715 15042511 21416598 28195393 0 No evidence available 2021-12-08 MONDO:0012075 B3GALNT2 148789 1q42.3 chr1:235610505-235667752 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014071 B3GALT6 126792 1p36.33 chr1:1167617-1170421 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010075 B4GALT1 2683 9p21.1 chr9:33104075-33167334 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011772 B4GALT7 11285 5q35.3 chr5:177027133-177037331 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0020682 B9D1 27077 17p11.2 chr17:19238008-19281226 30 Gene associated with autosomal recessive phenotype 21493627 34338422 32622957 0 No evidence available 2016-08-22 MONDO:0014927 BAG3 9531 10q26.11 chr10:121410892-121437331 3 Sufficient evidence for dosage pathogenicity 21353195 25008357 21459883 0 No evidence available 2015-02-12 MONDO:0005021 BAP1 8314 3p21.1 chr3:52435024-52444024 3 Sufficient evidence for dosage pathogenicity 21874000 21941004 21874003 30883995 30517737 0 No evidence available 2025-01-30 MONDO:0013692 BARD1 580 2q35 chr2:215590370-215674407 3 Sufficient evidence for dosage pathogenicity 20077502 20842729 21344236; 25994375 0 No evidence available 2020-05-01 MONDO:0016419 BAZ2B 29994 2q24.2 chr2:160175490-160568953 1 Little evidence for dosage pathogenicity 28554332 31981491 33057194 31398340 37872713 0 No evidence available 2025-12-01 BBS5 129880 2q31.1 chr2:170336004-170363165 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-10-11 MONDO:0014434 BBS7 55212 4q27 chr4:122745484-122791629 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014435 BCAP31 10134 Xq28 chrX:152965947-152989842 3 Sufficient evidence for dosage pathogenicity 31953925 33603160 32652807 32681719 24011989 28332767 0 No evidence available 2023-08-08 MONDO:0010334 BCHE 590 3q26.1 chr3:165490692-165555211 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0015270 BCKDHB 594 6q14.1 chr6:80816327-81055987 30 Gene associated with autosomal recessive phenotype 29307017 26239723 28417071 0 No evidence available 2026-02-27 MONDO:0009563 BCL11A 53335 2p16.1 chr2:60677655-60780789 3 Sufficient evidence for dosage pathogenicity 27453576 25938782 25979662 0 No evidence available 2017-04-13 MONDO:0014914 BCL2L11 10018 2q13 chr2:111878491-111926022 0 No evidence available 0 No evidence available 2018-06-21 BCLAF1 9774 6q23.3 chr6:136577765-136610984 1 Little evidence for dosage pathogenicity 28263302 25262651 0 No evidence available 2018-06-28 BCOR 54880 Xp11.4 chrX:39910499-40036582 3 Sufficient evidence for dosage pathogenicity 19367324 15770227 0 No evidence available 2012-10-04 MONDO:0010261 BCR 613 22q11.23 chr22:23522696-23660224 0 No evidence available 0 No evidence available 2012-07-10 BIN1 274 2q14.3 chr2:127805599-127864730 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009709 BLM 641 15q26.1 chr15:91260577-91359396 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2022-02-09 MONDO:0008876 BLNK 29760 10q24.1 chr10:97948927-98031326 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013289 BMP4 652 14q22.2 chr14:54416454-54423609 3 Sufficient evidence for dosage pathogenicity 21340693 18252212 31053785 30568244 31120642 34926457 0 No evidence available 2025-04-23 MONDO:0011936 BMPER 168667 7p14.3 chr7:33944527-34196039 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011946 BMPR1A 657 10q23.2 chr10:88516376-88687726 3 Sufficient evidence for dosage pathogenicity 11381269 15235019 23399955 0 No evidence available 2020-06-24 MONDO:0017380 BMPR2 659 2q33.1-q33.2 chr2:203241050-203432472 3 Sufficient evidence for dosage pathogenicity 10903931 11015450 0 No evidence available 2020-08-26 MONDO:0024533 BPHL 670 6p25.2 chr6:3118610-3153812 40 Dosage sensitivity unlikely 32487729 22344438 28406212 32461654 0 No evidence available 2021-02-02 BPNT2 54928 8q12.1 chr8:57870490-57906426 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013561 BPTF 2186 17q24.2 chr17:65821619-65980494 3 Sufficient evidence for dosage pathogenicity 28942966 33522091 0 No evidence available 2022-07-12 MONDO:0000508 BPY2 9083 Yq11.223 chrY:25130410-25151612 0 No evidence available 0 No evidence available 2012-08-22 BRAF 673 7q34 chr7:140413128-140624729 0 No evidence available 21862832 34312540 21062266 0 No evidence available 2025-09-24 BRCA1 672 17q21.31 chr17:41196312-41277381 3 Sufficient evidence for dosage pathogenicity 32375709 21989022 11802209 24312913 0 No evidence available 2021-09-23 MONDO:0700268 BRCA2 675 13q13.1 chr13:32889645-32974405 3 Sufficient evidence for dosage pathogenicity 16199546 17063271 25632310 12097290 11897832 12569143 0 No evidence available 2021-07-14 MONDO:0700269 BRIP1 83990 17q23.2 chr17:59756500-59940889 3 Sufficient evidence for dosage pathogenicity 29368626 26720728 26315354 32359370 0 No evidence available 2025-10-09 MONDO:0016248 BRPF1 7862 3p25.3 chr3:9773419-9789699 3 Sufficient evidence for dosage pathogenicity 27939640 27939639 31020800 32010779 35243762 37190896 0 No evidence available 2023-08-23 MONDO:0015022 BRSK2 9024 11p15.5 chr11:1411164-1483919 3 Sufficient evidence for dosage pathogenicity 25363760 25363768 31452935 30879638 35754711 0 No evidence available 2026-01-13 MONDO:0100038 BRWD3 254065 Xq21.1 chrX:79925002-80065376 3 Sufficient evidence for dosage pathogenicity 17668385 24462886 28475857 31714006 30628072 0 No evidence available 2022-08-24 MONDO:0100284 BTK 695 Xq22.1 chrX:100604438-100645784 3 Sufficient evidence for dosage pathogenicity 16159644 27512878 32169379 0 No evidence available 2021-03-24 MONDO:0010421 BUB1B 701 15q15.1 chr15:40453270-40513324 30 Gene associated with autosomal recessive phenotype 15475955 16411201 28611924 26658419 27239782 0 No evidence available 2022-02-01 MONDO:0009759 C19orf12 83636 19q12 chr19:30189793-30206696 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013674 C1QB 713 1p36.12 chr1:22979729-22988130 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-01-17 MONDO:0013343 C8orf37 157657 8q22.1 chr8:96257141-96281429 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013786 CA12 771 15q22.2 chr15:63613577-63674045 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0007747 CA8 767 8q12.1 chr8:61097971-61193959 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013188 CABP2 51475 11q13.2 chr11:67286383-67290917 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2021-08-20 MONDO:0013963 CABP4 57010 11q13.2 chr11:67219874-67229223 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012490 CACNA1A 773 19p13.13 chr19:13317256-13617293 3 Sufficient evidence for dosage pathogenicity 19586927 21927611 25735478 0 No evidence available 2017-05-21 MONDO:0007163 CACNA1C 775 12p13.33 chr12:2162153-2807116 1 Little evidence for dosage pathogenicity 0 No evidence available 2016-03-24 CACNA1E 777 1q25.3 chr1:181452653-181777219 1 Little evidence for dosage pathogenicity 30343943 34702355 0 No evidence available 2024-09-10 MONDO:0032657 CADPS2 93664 7q31.32 chr7:121958465-122526514 0 No evidence available 0 No evidence available 2012-07-10 CALM1 801 14q32.11 chr14:90862846-90874612 0 No evidence available 27535533 0 No evidence available 2023-12-12 CALM2 805 2p21 chr2:47387221-47404075 0 No evidence available 0 No evidence available 2024-07-09 MONDO:0017990 CALM3 808 19q13.32 chr19:47104331-47114039 0 No evidence available 0 No evidence available 2024-07-09 CAMK2A 815 5q32 chr5:149599054-149669693 1 Little evidence for dosage pathogenicity 29100089 29560374 35143101 24463508 0 No evidence available 2023-05-24 MONDO:0030919 CAMK2B 816 7p13 chr7:44256753-44365193 1 Little evidence for dosage pathogenicity 29100089 33796307 35519826 35753512 0 No evidence available 2023-01-25 MONDO:0030920 CAMTA1 23261 1p36.31-p36.23 chr1:6845514-7829766 3 Sufficient evidence for dosage pathogenicity 22693284 24738973 0 No evidence available 2017-12-14 MONDO:0013886 CANT1 124583 17q25.3 chr17:76987798-77005846 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009629 CAPN3 825 15q15.1 chr15:42651699-42704515 30 Gene associated with autosomal recessive phenotype 9150160 7720071 10330340 0 No evidence available 2016-08-22 MONDO:0009675 CAPRIN1 4076 11p13 chr11:34073278-34124157 1 Little evidence for dosage pathogenicity 35979925 34356170 0 No evidence available 2024-07-24 MONDO:0100038 CARD14 79092 17q25.3 chr17:78143829-78183130 0 No evidence available 0 No evidence available 2013-08-01 CASP10 843 2q33.1 chr2:202047864-202094129 1 Little evidence for dosage pathogenicity 21382177 0 No evidence available 2020-04-10 CASQ2 845 1p13.1 chr1:116242642-116311335 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0017990 CASZ1 54897 1p36.22 chr1:10696661-10856703 1 Little evidence for dosage pathogenicity 8263302 0 No evidence available 2019-04-25 CATSPER2 117155 15q15.3 chr15:43920701-43941082 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-09-20 CBFB 865 16q22.1 chr16:67063052-67134961 0 No evidence available 0 No evidence available 2012-02-22 CBL 867 11q23.3 chr11:119077049-119178859 0 No evidence available 0 No evidence available 2024-02-14 MONDO:0013308 CBS 875 21q22.3 chr21:44473301-44496983 30 Gene associated with autosomal recessive phenotype 0 No evidence available 11391481 2016-08-22 MONDO:0009352 CBY2 220082 13q14.13 chr13:46276455-46288694 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-03 CC2D2A 57545 4p15.32 chr4:15471489-15603180 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-07-17 MONDO:0015369 CCBE1 147372 18q21.32 chr18:57098171-57364655 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009337 CCDC103 388389 17q21.31 chr17:42977097-42982758 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013854 CCDC39 339829 3q26.33 chr3:180331796-180397277 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013434 CCDC40 55036 17q25.3 chr17:78010441-78074412 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013435 CCDC8 83987 19q13.32 chr19:46913586-46916821 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013627 CCN6 8838 6q21 chr6:112375307-112390889 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008827 CCNQ 92002 Xq28 chrX:152853383-152864595 1 Little evidence for dosage pathogenicity 18297069 28322501 36284407 0 No evidence available 2024-06-11 MONDO:0010408 CCT5 22948 5p15.2 chr5:10250033-10266524 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009748 CD19 930 16p11.2 chr16:28943292-28950663 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013283 CD27 939 12p13.31 chr12:6554121-6560879 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2023-07-27 MONDO:0014054 CD36 948 7q21.11 chr7:80231523-80308593 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012031 CD3D 915 11q23.3 chr11:118209669-118213420 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014280 CD3E 916 11q23.3 chr11:118175445-118186888 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-05-09 MONDO:0014278 CD3G 917 11q23.3 chr11:118215059-118225876 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014276 CD40LG 959 Xq26.3 chrX:135730317-135742549 3 Sufficient evidence for dosage pathogenicity 22750225 24768948 16019685 0 No evidence available 29499223 2020-04-08 MONDO:0010626 CD59 966 11p13 chr11:33724556-33758025 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012858 CD8A 925 2p11.2 chr2:87011728-87035519 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012161 CDAN1 146059 15q15.2 chr15:43015742-43029326 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009135 CDC42BPB 9578 14q32.32 chr14:103398717-103523886 2 Some evidence for dosage pathogenicity 22495309 28263302 32031333 31785789 35586607 0 No evidence available 2025-07-23 MONDO:0100038 CDC73 79577 1q31.2 chr1:193091161-193223945 3 Sufficient evidence for dosage pathogenicity 12434154 28774260 21324824 27544721 32590342 0 No evidence available 2022-04-13 MONDO:0007768 CDH1 999 16q22.1 chr16:68771195-68869440 3 Sufficient evidence for dosage pathogenicity 26182300 24037103 19168852 0 No evidence available 2020-04-10 MONDO:0007648 CDH15 1013 16q24.3 chr16:89238156-89261900 0 No evidence available 0 No evidence available 2013-08-08 MONDO:0012946 CDH23 64072 10q22.1 chr10:73156677-73575704 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0037940 CDHR1 92211 10q23.1 chr10:85954293-85979377 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013348 CDIN1 84529 15q14 chr15:36871827-37102445 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014285 CDK13 8621 7p14.1 chr7:39989855-40139179 3 Sufficient evidence for dosage pathogenicity 31238879 28991257 29393965 35063350 29021403 36599938 0 No evidence available 2025-09-04 MONDO:0000508 CDK4 1019 12q14.1 chr12:58141510-58146093 0 No evidence available 0 No evidence available 2020-09-02 MONDO:0012183 CDK5RAP2 55755 9q33.2 chr9:123151153-123342445 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011488 CDK6 1021 7q21.2 chr7:92234235-92465887 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014484 CDKL5 6792 Xp22.13 chrX:18443728-18671749 3 Sufficient evidence for dosage pathogenicity 15492925 15689447 19241098 0 No evidence available 2012-07-12 MONDO:0010396 CDKN1B 1027 12p13.1 chr12:12870302-12875303 3 Sufficient evidence for dosage pathogenicity 30990521 17519308 29036195 0 No evidence available 2020-07-08 MONDO:0012552 CDKN1C 1028 11p15.4 chr11:2904448-2907005 3 Sufficient evidence for dosage pathogenicity 20503313 23197429 26077438 0 No evidence available 26358311 2020-09-25 MONDO:0007534 CDKN2A 1029 9p21.3 chr9:21967751-21995323 3 Sufficient evidence for dosage pathogenicity 30291219 29661971 12072543 11156381 18612309 0 No evidence available 2022-03-18 MONDO:0007964 CDT1 81620 16q24.3 chr16:88870197-88875666 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013431 CDY1 9085 Yq11.23 chrY:27768264-27771049 0 No evidence available 0 No evidence available 2012-08-22 CEBPA 1050 19q13.11 chr19:33790840-33793470 0 No evidence available 0 No evidence available 2022-06-09 MONDO:0018874 CEBPE 1053 14q11.2 chr14:23586515-23588464 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0044207 CELF4 56853 18q12.2 chr18:34823003-35145761 1 Little evidence for dosage pathogenicity 28714951 0 No evidence available 2022-12-07 MONDO:0001071 CENPJ 55835 13q12.12-q12.13 chr13:25456417-25496999 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012029 CENPP 401541 9q22.31 chr9:95087750-95382811 0 No evidence available 0 No evidence available 2012-09-19 CEP164 22897 11q23.3 chr11:117192494-117283982 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013917 CEP290 80184 12q21.32 chr12:88442793-88535865 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-22 MONDO:0015369 CEP78 84131 9q21.2 chr9:80850991-80894606 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-10-23 MONDO:0020778 CERS3 204219 15q26.3 chr15:100940600-101084888 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014010 CERT1 10087 5q13.3 chr5:74664311-74807806 0 No evidence available 0 No evidence available 2023-01-25 CFAP53 220136 18q21.1 chr18:47753563-47792865 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013887 CFC1 55997 2q21.1 chr2:131349738-131357148 0 No evidence available 0 No evidence available 2021-09-22 CFD 1675 19p13.3 chr19:859664-863641 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013487 CFL2 1073 14q13.1 chr14:35178319-35183799 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012538 CFTR 1080 7q31.2 chr7:117120079-117308719 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009061 CHAMP1 283489 13q34 chr13:115079978-115092797 1 Little evidence for dosage pathogenicity 26751395 26340335 27148580 34021018 0 No evidence available 2025-06-10 MONDO:0100038 CHAT 1103 10q11.23 chr10:50817141-50875988 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009689 CHD1L 9557 1q21.1 chr1:146644326-146767443 0 No evidence available 0 No evidence available 2018-08-30 CHD2 1106 15q26.1 chr15:93443554-93571226 3 Sufficient evidence for dosage pathogenicity 23708187 23020937 24207121 0 No evidence available 2019-10-23 MONDO:0014150 CHD4 1108 12p13.31 chr12:6679248-6716545 1 Little evidence for dosage pathogenicity 31388190 31238879 34408481 0 No evidence available 2022-11-30 MONDO:0014946 CHD5 26038 1p36.31 chr1:6161847-6240381 1 Little evidence for dosage pathogenicity 33944996 0 No evidence available 2022-09-27 MONDO:0100038 CHD7 55636 8q12.2 chr8:61591299-61780587 3 Sufficient evidence for dosage pathogenicity 21158681 16400610 19248844 0 No evidence available 2023-04-11 MONDO:0008965 CHD8 57680 14q11.2 chr14:21853358-21924282 3 Sufficient evidence for dosage pathogenicity 23160955 24998929 27824329 0 No evidence available 2018-04-25 MONDO:0100038 CHEK1 1111 11q24.2 chr11:125495031-125546150 0 No evidence available 33504652 26689913 0 No evidence available 2021-11-10 CHEK2 11200 22q12.1 chr22:29083731-29137822 3 Sufficient evidence for dosage pathogenicity 15122511 16897426 18381420 0 No evidence available 2020-01-08 MONDO:0016419 CHKB 1120 22q13.33 chr22:51017392-51021278 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011246 CHL1 10752 3p26.3 chr3:238446-451100 0 No evidence available 27933663 20101686 34056867 21457564 25451713 12812975 0 No evidence available 23436495 24778888 2023-12-12 CHM 1121 Xq21.2 chrX:85116185-85302562 3 Sufficient evidence for dosage pathogenicity 33538369 27070432 0 No evidence available 2021-03-24 MONDO:0010557 CHMP1A 5119 16q24.3 chr16:89710843-89724116 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013990 CHMP7 91782 8p21.3 chr8:23101150-23119512 0 No evidence available 0 No evidence available 2022-09-27 CHRDL1 91851 Xq23 chrX:109917084-110039045 3 Sufficient evidence for dosage pathogenicity 22284829 25093588 26020825 0 No evidence available 2016-12-08 MONDO:0010649 CHRM3 1131 1q43 chr1:239549868-240078750 0 No evidence available 0 No evidence available 2023-11-16 CHRNA4 1137 20q13.33 chr20:61974575-61992701 0 No evidence available 32536355 26309560 0 No evidence available 2025-12-22 CHRNA7 1139 15q13.3 chr15:32322686-32465219 0 No evidence available 0 No evidence available 2018-05-10 CHST6 4166 16q23.1 chr16:75505940-75529339 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009020 CHSY1 22856 15q26.3 chr15:101715932-101792253 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011533 CIC 23152 19q13.2 chr19:42772682-42799948 3 Sufficient evidence for dosage pathogenicity 28288114 28263302 22542183 35165976 34117072 30504930 0 No evidence available 2022-11-08 MONDO:0100038 CIDEC 63924 3p25.3 chr3:9908394-9921937 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014098 CITED2 10370 6q24.1 chr6:139692944-139695785 0 No evidence available 16287139 31515672 33439552 23082118 28687891 24848765 0 No evidence available 2023-11-29 MONDO:0000119 CLASP1 23332 2q14.2-q14.3 chr2:122095352-122407038 0 No evidence available 0 No evidence available 2022-12-13 CLCF1 23529 11q13.2 chr11:67131639-67141648 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012467 CLCN4 1183 Xp22.2 chrX:10125015-10205700 1 Little evidence for dosage pathogenicity 25644381 27550844 0 No evidence available 2022-07-27 MONDO:0019181 CLCN5 1184 Xp11.23 chrX:49687206-49863887 3 Sufficient evidence for dosage pathogenicity 15086899 22083641 0 No evidence available 2012-10-18 MONDO:0010225 CLCNKA 1187 1p36.13 chr1:16348531-16360545 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-05-17 MONDO:0000909 CLCNKB 1188 1p36.13 chr1:16370277-16383821 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2011-11-17 MONDO:0011822 CLDN14 23562 21q22.13 chr21:37832919-37948867 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013537 CLMP 79827 11q24.1 chr11:122940580-123065956 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0020718 CLN3 1201 16p12.1 chr16:28477974-28503403 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008767 CLN8 2055 8p23.3 chr8:1711955-1734736 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010830 CLNK 116449 4p16.1 chr4:10488019-10686392 0 No evidence available 0 No evidence available 2016-06-02 CLPP 8192 19p13.3 chr19:6361542-6370253 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-03-06 MONDO:0013588 CLRN1 7401 3q25.1 chr3:150643950-150690786 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010170 CLTC 1213 17q23.1 chr17:57697256-57774317 3 Sufficient evidence for dosage pathogenicity 31776469 26822784 33041083 29100083 0 No evidence available 2022-09-27 MONDO:0100038 CNGB1 1258 16q21 chr16:57916244-58005032 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013413 CNKSR2 22866 Xp22.12 chrX:21392536-21672807 3 Sufficient evidence for dosage pathogenicity 22511892 25223753 25754917 0 No evidence available 2021-01-12 MONDO:0030909 CNNM4 26504 2q11.2 chr2:97426639-97477611 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009007 CNOT1 23019 16q21 chr16:58553855-58663730 3 Sufficient evidence for dosage pathogenicity 32553196 0 No evidence available 2022-12-13 MONDO:0100038 CNOT2 4848 12q15 chr12:70636798-70748773 1 Little evidence for dosage pathogenicity 30768759 31145527 31512373 34018673 36224108 0 No evidence available 2022-11-08 MONDO:0032832 CNOT3 4849 19q13.42 chr19:54641478-54659419 0 No evidence available 0 No evidence available 2018-06-27 CNTN1 1272 12q12 chr12:41086241-41466217 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012929 CNTN2 6900 1q32.1 chr1:205012077-205047417 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014167 CNTN4 152330 3p26.3-p26.2 chr3:2140550-3099643 0 No evidence available 15106122 18349135 21308999 31422286 19404257 31801954 0 No evidence available 2022-06-14 MONDO:0100038 CNTN6 27255 3p26.3 chr3:1134708-1445901 0 No evidence available 25606055 26257835 27166760 30826922 30836150 30508811 0 No evidence available 26257835 25606055 28641109 2022-09-28 CNTNAP2 26047 7q35-q36.1 chr7:145813893-148118090 1 Little evidence for dosage pathogenicity 22031302 0 No evidence available 2019-10-23 CNTNAP5 129684 2q14.3 chr2:124782864-125678796 1 Little evidence for dosage pathogenicity 32329157 0 No evidence available 2024-09-24 COG1 9382 17q25.1 chr17:71189194-71204646 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012637 COG4 25839 16q22.1 chr16:70514470-70557457 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013281 COG7 91949 16p12.2 chr16:23399814-23464510 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 MONDO:0012118 COG8 84342 16q22.1 chr16:69360331-69373467 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-25 MONDO:0012635 COL11A1 1301 1p21.1 chr1:103342029-103574078 1 Little evidence for dosage pathogenicity 21035103 0 No evidence available 2011-10-19 MONDO:0011493 COL16A1 1307 1p35.2 chr1:32117864-32169618 40 Dosage sensitivity unlikely 32487729 22344438 32461654 0 No evidence available 2021-02-01 COL1A1 1277 17q21.33 chr17:48261462-48278992 3 Sufficient evidence for dosage pathogenicity 9067755 9016532 0 No evidence available 2012-08-23 MONDO:0008146 COL1A2 1278 7q21.3 chr7:94024207-94060539 0 No evidence available 0 No evidence available 2012-10-12 COL2A1 1280 12q13.11 chr12:48366750-48398259 3 Sufficient evidence for dosage pathogenicity 27390512 27408751 17721977 0 No evidence available 2020-07-29 MONDO:0007160 COL3A1 1281 2q32.2 chr2:189839099-189877472 3 Sufficient evidence for dosage pathogenicity 11577371 24922459 24650746 0 No evidence available 2017-01-12 MONDO:0017314 COL4A3 1285 2q36.3 chr2:228029340-228179508 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-05-22 MONDO:0008762 COL4A5 1287 Xq22.3 chrX:107683068-107940775 3 Sufficient evidence for dosage pathogenicity 16941480 10752524 30577881 0 No evidence available 2020-09-08 MONDO:0010520 COL5A1 1289 9q34.3 chr9:137533649-137736689 3 Sufficient evidence for dosage pathogenicity 10777716 8673139 10796876 0 No evidence available 2017-12-14 MONDO:0019567 COL5A2 1290 2q32.2 chr2:189896624-190044487 0 No evidence available 22696272 0 No evidence available 2026-01-13 MONDO:0007522 COL6A5 256076 3q22.1 chr3:130064359-130203690 40 Dosage sensitivity unlikely 32487729 26940866 28406212 25807282 32461654 0 No evidence available 2021-02-02 COL7A1 1294 3p21.31 chr3:48601506-48632762 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2023-02-08 COL9A1 1297 6q13 chr6:70924764-71012787 0 No evidence available 0 No evidence available 2013-11-06 MONDO:0013591 COL9A2 1298 1p34.2 chr1:40766161-40782958 0 No evidence available 0 No evidence available 2013-10-09 COLEC11 78989 2p25.3 chr2:3642702-3692234 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009927 COLQ 8292 3p25.1 chr3:15491640-15563213 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011281 COQ2 27235 4q21.22-q21.23 chr4:84184977-84206287 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011829 CORO1A 11151 16p11.2 chr16:30194923-30200397 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014168 COX10 1352 17p12 chr17:13972821-14111994 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009723 COX15 1355 10q24.2 chr10:101454050-101491884 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014051 COX20 116228 1q44 chr1:244998608-245008365 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0044970 COX6B1 1340 19q13.12 chr19:36139225-36149684 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0044970 CP 1356 3q24-q25.1 chr3:148880201-148939616 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011426 CPA4 51200 7q32.2 chr7:129933001-129964020 0 No evidence available 0 No evidence available 2012-07-25 CPA6 57094 8q13.2 chr8:68334273-68658595 0 No evidence available 0 No evidence available 2019-09-04 CPLANE1 65250 5p13.2 chr5:37106337-37249478 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013824 CPN1 1369 10q24.2 chr10:101801950-101841626 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008910 CPS1 1373 2q34 chr2:211342409-211543831 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009376 CPT1A 1374 11q13.3 chr11:68522088-68609384 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009705 CRADD 8738 12q22 chr12:94071151-94288616 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013785 CREBBP 1387 16p13.3 chr16:3775055-3930714 3 Sufficient evidence for dosage pathogenicity 17473832 20717166 18792986 18792986 20689175 30892814 30633342 0 No evidence available 19833603 2019-10-23 MONDO:0008393 CRHR1 1394 17q21.31 chr17:43861686-43913194 0 No evidence available 0 No evidence available 2012-07-06 CRIPT 9419 2p21 chr2:46844354-46857315 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014347 CRKL 1399 22q11.21 chr22:21271695-21308035 1 Little evidence for dosage pathogenicity 28121514 0 No evidence available 2020-04-13 CRPPA 729920 7p21.2 chr7:16127150-16461163 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0018276 CRTAP 10491 3p22.3 chr3:33155506-33189265 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012536 CRYBA1 1411 17q11.2 chr17:27573877-27581512 0 No evidence available 0 No evidence available 2013-06-06 CRYBB2 1415 22q11.23 chr22:25615606-25627836 0 No evidence available 0 No evidence available 2023-01-10 CRYGC 1420 2q33.3 chr2:208992861-208994552 0 No evidence available 0 No evidence available 2013-05-22 CSF2RA 1438 Xp22.33 and Yp11.2 chrY:1268814-1325218 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2021-08-23 MONDO:0012580 CSF2RA 1438 Xp22.33 and Yp11.2 chrX:1387707-1444111 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2021-08-23 MONDO:0012580 CSF2RB 1439 22q12.3 chr22:37309670-37336481 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013712 CSMD1 64478 8p23.2 chr8:2792883-4852436 1 Little evidence for dosage pathogenicity 21658582 28934986 0 No evidence available 2024-10-08 MONDO:0100038 CSNK2A1 1457 20p13 chr20:453142-524434 1 Little evidence for dosage pathogenicity 27048600 30655572 38444259 37195306 33944995 35221879 0 No evidence available 2024-06-26 MONDO:0000508 CSPP1 79848 8q13.1-q13.2 chr8:67976603-68108849 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014288 CSTB 1476 21q22.3 chr21:45193831-45196189 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009698 CTC1 80169 17p13.1 chr17:8128133-8151374 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2019-10-08 MONDO:0024564 CTCF 10664 16q22.1 chr16:67596429-67673088 3 Sufficient evidence for dosage pathogenicity 23746550 30893510 31239556 25363768 33004838 0 No evidence available 2021-09-22 MONDO:0000508 CTDP1 9150 18q23 chr18:77439803-77516625 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011402 CTH 1491 1p31.1 chr1:70876951-70905534 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009058 CTNNA1 1495 5q31.2 chr5:138089114-138270723 3 Sufficient evidence for dosage pathogenicity 32051609 29330337 33326660 26182300 28724667 23208944 0 No evidence available 2022-10-12 MONDO:0018502 CTNNA3 29119 10q21.3 chr10:67672281-69455953 0 No evidence available 23375656 21658582 20427753 0 No evidence available 23632794 23375656 2018-10-24 MONDO:0100038 CTNNB1 1499 3p22.1 chr3:41240996-41281934 3 Sufficient evidence for dosage pathogenicity 27915094 23033978 25326669 0 No evidence available 2017-11-22 MONDO:0014035 CTNND2 1501 5p15.2 chr5:10971948-11904558 1 Little evidence for dosage pathogenicity 25106414 25807484 25473103 23375656 25839933 31814264 0 No evidence available 2021-10-12 MONDO:0100038 CTNS 1497 17p13.2 chr17:3539753-3566397 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-22 MONDO:0100151 CTSB 1508 8p23.1 chr8:11700033-11725596 0 No evidence available 0 No evidence available 2012-02-08 CUBN 8029 10p13 chr10:16865965-17171810 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0100156 CUL4B 8450 Xq24 chrX:119657713-119709387 3 Sufficient evidence for dosage pathogenicity 17236139 17273978 22182342 26350204 0 No evidence available 2021-02-09 MONDO:0010306 CYB5A 1528 18q22.3 chr18:71918081-71959198 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009605 CYBB 1536 Xp21.1-p11.4 chrX:37639312-37672714 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2020-05-27 MONDO:0010600 CYLD 1540 16q12.1 chr16:50775997-50835846 3 Sufficient evidence for dosage pathogenicity 10835629 15854031 20132422 0 No evidence available 2021-02-10 MONDO:0011512 CYP21A2 1589 6p21.33 chr6:32006192-32009421 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-07-06 MONDO:0008728 CYP24A1 1591 20q13.2 chr20:52769985-52790525 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0020739 CYP27A1 1593 2q35 chr2:219646870-219680016 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008948 CYP3A43 64816 7q22.1 chr7:99425636-99463716 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 CYP4F22 126410 19p13.12 chr19:15619336-15663128 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011485 CYP4V2 285440 4q35.1-q35.2 chr4:187112721-187134617 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008865 D2HGDH 728294 2q37.3 chr2:242674045-242708226 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0024554 DARS2 55157 1q25.1 chr1:173793811-173827684 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012622 DAZ1 1617 Yq11.223 chrY:25275502-25345241 0 No evidence available 0 No evidence available 2012-10-17 DBH 1621 9q34.2 chr9:136501485-136524451 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009123 DBT 1629 1p21.2 chr1:100652475-100715390 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009563 DCHS1 8642 11p15.4 chr11:6642561-6677040 1 Little evidence for dosage pathogenicity 26258302 0 No evidence available 2018-08-31 DCLRE1C 64421 10p13 chr10:14939358-14996431 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011225 DCX 1641 Xq23 chrX:110537007-110655420 3 Sufficient evidence for dosage pathogenicity 9489700 0 No evidence available 2012-07-06 MONDO:0010239 DCXR 51181 17q25.3 chr17:79993734-79995573 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009846 DDB2 1643 11p11.2 chr11:47236525-47260768 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010213 DDHD1 80821 14q22.1 chr14:53503473-53620041 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-09-25 MONDO:0012256 DDOST 1650 1p36.12 chr1:20978270-20987862 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013789 DDX3X 1654 Xp11.4 chrX:41192561-41223725 3 Sufficient evidence for dosage pathogenicity 26235985 27159028 28327206 0 No evidence available 2017-11-22 MONDO:0010497 DDX41 51428 5q35.3 chr5:176938578-176943962 3 Sufficient evidence for dosage pathogenicity 25920683 31484648 30963592 33585199 32868804 32098966 0 No evidence available 2022-02-09 MONDO:0014809 DEPDC5 9681 22q12.2-q12.3 chr22:32149954-32304019 3 Sufficient evidence for dosage pathogenicity 23542701 23542697 24591017 24814846 26505888 37471090 0 No evidence available 2025-06-30 MONDO:0005384 DGKE 8526 17q22 chr17:54911512-54946928 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014005 DGUOK 1716 2p13.1 chr2:74154007-74186073 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009636 DHCR7 1717 11q13.4 chr11:71145457-71159439 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-04 MONDO:0010035 DHODH 1723 16q22.2 chr16:72042643-72061558 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009903 DHX57 90957 2p22.1 chr2:39024871-39103075 0 No evidence available 25363760 28263302 0 No evidence available 2018-06-28 DICER1 23405 14q32.13 chr14:95552565-95624347 3 Sufficient evidence for dosage pathogenicity 26925222 19556464 21266384 25118636 28624956 22180160 0 No evidence available 2022-02-09 MONDO:0100216 DIP2A 23181 21q22.3 chr21:47878804-47991139 1 Little evidence for dosage pathogenicity 18521840 25363768 24643514 0 No evidence available 2019-01-23 MONDO:0100038 DIRAS3 9077 1p31.3 chr1:68511569-68517314 0 No evidence available 0 No evidence available 2011-10-19 DIS3L2 129563 2q37.1 chr2:232826423-233209060 1 Little evidence for dosage pathogenicity 25670083 31350202 26822237 0 No evidence available 2020-10-14 MONDO:0009965 DISC1 27185 1q42.2 chr1:231762536-232177018 0 No evidence available 0 No evidence available 2012-03-06 DISP1 84976 1q41 chr1:222988381-223179337 0 No evidence available 0 No evidence available 2012-07-06 DKC1 1736 Xq28 chrX:153991139-154005964 1 Little evidence for dosage pathogenicity 18627054 0 No evidence available 2023-06-14 MONDO:0100152 DLG2 1740 11q14.1 chr11:83166055-85339417 1 Little evidence for dosage pathogenicity 21792059 25055870 18511947 0 No evidence available 2018-11-28 MONDO:0100038 DLG3 1741 Xq13.1 chrX:69664685-69725340 3 Sufficient evidence for dosage pathogenicity 15185169 19795139 24721225 32021600 25644381 0 No evidence available 2024-04-25 MONDO:0019181 DLG4 1742 17p13.1 chr17:7090506-7123369 3 Sufficient evidence for dosage pathogenicity 33597769 0 No evidence available 2023-10-10 MONDO:0100038 DLGAP2 9228 8p23.3 chr8:687628-1656642 0 No evidence available 0 No evidence available 2012-03-22 DLK1 8788 14q32.2 chr14:101193229-101204561 0 No evidence available 0 No evidence available 2012-04-28 DLL1 28514 6q27 chr6:170591294-170600166 3 Sufficient evidence for dosage pathogenicity 31353024 22542183 0 No evidence available 2021-03-09 MONDO:0032877 DLX1 1745 2q31.1 chr2:172950235-172954402 0 No evidence available 0 No evidence available 2012-03-30 DLX2 1746 2q31.1 chr2:172964166-172967628 0 No evidence available 0 No evidence available 2012-01-19 DLX5 1749 7q21.3 chr7:96649708-96654143 0 No evidence available 0 No evidence available 2012-05-14 MONDO:0009080 DLX6 1750 7q21.3 chr7:96634865-96640352 0 No evidence available 0 No evidence available 2012-05-14 MONDO:0009080 DMD 1756 Xp21.2-p21.1 chrX:31137339-33357505 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2019-11-20 MONDO:0010679 DMP1 1758 4q22.1 chr4:88571432-88585509 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009430 DMRT1 1761 9p24.3 chr9:841697-969090 1 Little evidence for dosage pathogenicity 20685758 22573722 23555275 32741963 0 No evidence available 2023-11-10 MONDO:0002145 DMRT2 10655 9p24.3 chr9:1050357-1057552 0 No evidence available 0 No evidence available 2012-08-22 DMXL2 23312 15q21.2 chr15:51739988-51914968 0 No evidence available 0 No evidence available 2012-04-04 DNAAF1 123872 16q24.1 chr16:84178913-84211526 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013174 DNAH11 8701 7p15.3 chr7:21582657-21941457 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012748 DNAH5 1767 5p15.2 chr5:13690437-13944797 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012085 DNAI1 27019 9p13.3 chr9:34458803-34520982 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009484 DNAI2 64446 17q25.1 chr17:72270373-72311023 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012906 DNAJB6 10049 7q36.3 chr7:157129698-157210133 0 No evidence available 0 No evidence available 2012-10-29 DNAJC21 134218 5p13.2 chr5:34929664-34959069 1 Little evidence for dosage pathogenicity 26822949 0 No evidence available 2020-10-14 MONDO:0014887 DNAJC28 54943 21q22.11 chr21:34860362-34864023 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 DNAJC6 9829 1p31.3 chr1:65730432-65881554 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014231 DNASE1 1773 16p13.3 chr16:3661761-3715462 0 No evidence available 0 No evidence available 2012-02-22 DNM1 1759 9q34.11 chr9:130965658-131017523 30 Gene associated with autosomal recessive phenotype 34172529 36553519 0 No evidence available 2023-08-08 MONDO:0100062 DNMT3A 1788 2p23.3 chr2:25450743-25565459 3 Sufficient evidence for dosage pathogenicity 24614070 29900417 31685998 0 No evidence available 2024-09-25 MONDO:0014382 DOCK7 85440 1p31.3 chr1:62920397-63154057 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014371 DOCK8 81704 9p24.3 chr9:214865-465255 30 Gene associated with autosomal recessive phenotype 0 No evidence available 32185055 2023-06-14 MONDO:0009478 DOK7 285489 4p16.3 chr4:3465033-3503209 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009690 DPAGT1 1798 11q23.3 chr11:118967220-118972563 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0015286 DPM1 8813 20q13.13 chr20:49551392-49575101 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012123 DPM3 54344 1q22 chr1:155112367-155113007 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 MONDO:0013049 DPP6 1804 7q36.2 chr7:153445218-154685995 1 Little evidence for dosage pathogenicity 23832105 18252227 30874922 0 No evidence available 2019-06-26 MONDO:0014580 DPYD 1806 1p21.3 chr1:97543299-98386615 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-01-23 MONDO:0010130 DPYS 1807 8q22.3 chr8:105391659-105479283 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009111 DRD5 1816 4p16.1 chr4:9783258-9785633 0 No evidence available 0 No evidence available 2012-05-15 DSC2 1824 18q12.1 chr18:28638806-28682384 1 Little evidence for dosage pathogenicity 17186466 17033975 29178656 31386562 33684294 0 No evidence available 2024-04-24 MONDO:0016342 DSC3 1825 18q12.1 chr18:28569331-28622708 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013136 DSCAM 1826 21q22.2 chr21:41382926-42219084 2 Some evidence for dosage pathogenicity 27824329 25363768 25363760 33004838 34312540 0 No evidence available 2023-10-10 MONDO:0005258 DSE 29940 6q22.1 chr6:116575334-116766024 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014236 DSG2 1829 18q12.1 chr18:29078140-29128971 2 Some evidence for dosage pathogenicity 21397041 17105751 16773573 31638835 29606362 16505173 0 No evidence available 2022-12-13 MONDO:0016587 DSG4 147409 18q12.1 chr18:28956740-28994872 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011932 DSP 1832 6p24.3 chr6:7541904-7586947 3 Sufficient evidence for dosage pathogenicity 31514951 27532257 24503780 23810894 20716751 31319917 0 No evidence available 2021-10-12 MONDO:0005021 DSPP 1834 4q22.1 chr4:88529681-88538025 0 No evidence available 0 No evidence available 2013-03-27 DYM 54808 18q21.1 chr18:46562757-46987015 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-02-23 MONDO:0016761 DYNC1H1 1778 14q32.31 chr14:102430910-102522780 0 No evidence available 0 No evidence available 2023-11-14 MONDO:0018894 DYNC2H1 79659 11q22.3 chr11:102980155-103350591 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013127 DYNC2I1 55112 7q36.3 chr7:158631936-158738880 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014214 DYRK1A 1859 21q22.13 chr21:38737875-38898660 3 Sufficient evidence for dosage pathogenicity 22495309 21294719 25944381 0 No evidence available 2020-12-16 MONDO:0013578 EARS2 124454 16p12.2 chr16:23532075-23568696 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013971 EBF3 253738 10q26.3 chr10:131633497-131762538 3 Sufficient evidence for dosage pathogenicity 28017373 28017370 35340043 37090941 0 No evidence available 34999443 2023-12-06 MONDO:0015021 EBP 10682 Xp11.23 chrX:48380196-48387104 3 Sufficient evidence for dosage pathogenicity 11038443 12509714 10942423 0 No evidence available 2020-01-22 MONDO:0020603 EDA 1896 Xq13.1 chrX:68835957-69259322 3 Sufficient evidence for dosage pathogenicity 18510547 17568423 9683615 18666859 21457804 0 No evidence available 2023-01-25 MONDO:0010585 EDNRB 1910 13q22.3 chr13:78469616-78549662 1 Little evidence for dosage pathogenicity 10528251 30394532 28236341 32990402 31427586 0 No evidence available 2022-02-07 MONDO:0010192 EEF1A2 1917 20q13.33 chr20:62119367-62130436 0 No evidence available 0 No evidence available 2023-06-13 MONDO:0100038 EFCAB13 124989 17q21.32 chr17:45401321-45518678 40 Dosage sensitivity unlikely 32487729 26940866 25807282 28406212 32461654 0 No evidence available 2021-02-02 EFL1 79631 15q25.2 chr15:82422574-82555075 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2022-04-13 MONDO:0009833 EFNB1 1947 Xq13.1 chrX:68048864-68062003 3 Sufficient evidence for dosage pathogenicity 15124102 15166289 23335590 31285555 16639408 1 Little evidence for dosage pathogenicity 21064195 21542058 21782985 2025-05-13 MONDO:0010570 EFTUD2 9343 17q21.31 chr17:42927316-42976813 3 Sufficient evidence for dosage pathogenicity 22305528 23188108 0 No evidence available 2013-05-23 MONDO:0012516 EGFR 1956 7p11.2 chr7:55086710-55279321 0 No evidence available 25606410 0 No evidence available 2022-05-11 EGR2 1959 10q21.3 chr10:64571756-64578927 0 No evidence available 0 No evidence available 2011-11-28 EIF2AK3 9451 2p11.2 chr2:88856259-88926982 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009192 EIF2B1 1967 12q24.31 chr12:124104953-124118233 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0800439 EIF2B3 8891 1p34.1 chr1:45316194-45452267 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0800439 EIF4A3 9775 17q25.3 chr17:78108168-78120927 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009998 ELAVL2 1993 9p21.3 chr9:23690102-23850599 1 Little evidence for dosage pathogenicity 25055870 0 No evidence available 2018-11-28 MONDO:0100038 ELK1 2002 Xp11.23 chrX:47494919-47510003 0 No evidence available 0 No evidence available 2012-09-26 ELN 2006 7q11.23 chr7:73442503-73484237 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-07-10 MONDO:0008504 ELOA3 162699 18q21.1 chr18:44554573-44556449 0 No evidence available 0 No evidence available 2012-02-22 EMX2 2018 10q26.11 chr10:119302257-119309057 1 Little evidence for dosage pathogenicity 8528262 9359037 18409201 20157829 17506092 25577462 0 No evidence available 2021-11-09 MONDO:0010011 EN2 2020 7q36.3 chr7:155250824-155257526 0 No evidence available 0 No evidence available 2012-08-26 ENG 2022 9q34.11 chr9:130577291-130617052 3 Sufficient evidence for dosage pathogenicity 9245986 9366572; 10545596; 10749981 15879500 23399955; 35487791 0 No evidence available 2024-01-11 MONDO:0008535 ENO3 2027 17p13.2 chr17:4853847-4860424 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013046 ENPP1 5167 6q23.2 chr6:132129160-132216295 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013219 EP300 2033 22q13.2 chr22:41488596-41576081 3 Sufficient evidence for dosage pathogenicity 15706485 19353645 0 No evidence available 2013-03-14 MONDO:0013364 EPB42 2038 15q15.2 chr15:43489425-43513216 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012985 EPM2A 7957 6q24.3 chr6:145946441-146057159 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009697 EPS8 2059 12p12.3 chr12:15773068-15942322 30 Gene associated with autosomal recessive phenotype 24741995 27344577 0 No evidence available 2018-02-07 MONDO:0014428 ERBB4 2066 2q34 chr2:212240442-213403526 1 Little evidence for dosage pathogenicity 23275889 23375656 23633123 33603162 35441737 0 No evidence available 2024-10-23 MONDO:0100038 ERCC1 2067 19q13.32 chr19:45910592-45954805 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012554 ERCC2 2068 19q13.32 chr19:45853095-45873831 30 Gene associated with autosomal recessive phenotype 40 Dosage sensitivity unlikely 2023-06-13 MONDO:0010212 ERCC3 2071 2q14.3 chr2:128014866-128051720 30 Gene associated with autosomal recessive phenotype 27655433 28202063 0 No evidence available 2020-06-30 MONDO:0012531 ERCC4 2072 16p13.12 chr16:14014011-14046205 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2023-08-09 ERCC5 2073 13q33.1 chr13:103498382-103528345 30 Gene associated with autosomal recessive phenotype 40 Dosage sensitivity unlikely 2016-08-22 MONDO:0010216 ERCC6L2 375748 9q22.32 chr9:98637973-98803374 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014317 ERCC8 1161 5q12.1 chr5:60162281-60240897 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0019569 ERF 2077 19q13.2 chr19:42751721-42759280 3 Sufficient evidence for dosage pathogenicity 30758909 23354439 26097063 29215649 0 No evidence available 2021-06-08 MONDO:0010929 ESCO2 157570 8p21.1 chr8:27632071-27662833 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0100253 ESPN 83715 1p36.31 chr1:6484836-6521004 30 Gene associated with autosomal recessive phenotype 15286153 18973245 0 No evidence available 2018-02-07 MONDO:0012170 ETFB 2109 19q13.41 chr19:51848409-51869642 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009282 ETFDH 2110 4q32.1 chr4:159593448-159630775 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009282 ETV6 2120 12p13.2 chr12:11802608-12048311 3 Sufficient evidence for dosage pathogenicity 26522332 30940639 26102509 27365488 25807284 28104920 0 No evidence available 2023-01-11 MONDO:0014536 EVC2 132884 4p16.2 chr4:5564166-5711275 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-07-18 MONDO:0009162 EVX2 344191 2q31.1 chr2:176944835-176948690 0 No evidence available 0 No evidence available 2012-04-04 EXO5 64789 1p34.2 chr1:40974439-40981710 40 Dosage sensitivity unlikely 32487729 25807282 32461654 0 No evidence available 2021-02-02 EXOSC3 51010 9p13.2 chr9:37779711-37785089 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013853 EXPH5 23086 11q22.3 chr11:108376162-108464495 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014014 EXT1 2131 8q24.11 chr8:118806729-119124065 3 Sufficient evidence for dosage pathogenicity 29529714 30334991 28690282 0 No evidence available 2020-06-17 MONDO:0007585 EXT2 2132 11p11.2 chr11:44117228-44273512 3 Sufficient evidence for dosage pathogenicity 29529714 30334991 28690282 0 No evidence available 2020-06-23 MONDO:0007586 EYA1 2138 8q13.3 chr8:72109668-72460329 3 Sufficient evidence for dosage pathogenicity 30086703 16813606 29552445 0 No evidence available 2020-08-25 MONDO:0007236 EYA4 2070 6q23.2 chr6:133562495-133853266 3 Sufficient evidence for dosage pathogenicity 11159937 17567890 15735644 0 No evidence available 2020-01-22 MONDO:0011031 EYS 346007 6q12 chr6:64429876-66417119 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011272 F10 2159 13q34 chr13:113777113-113803843 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009212 F13A1 2162 6p25.1 chr6:6144317-6320895 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013187 F13B 2165 1q31.3 chr1:197007871-197036390 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013190 F5 2153 1q24.2 chr1:169481189-169555719 30 Gene associated with autosomal recessive phenotype 11435304 19598066 0 No evidence available 2018-01-11 MONDO:0009210 F7 2155 13q34 chr13:113760102-113774999 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009211 F8 2157 Xq28 chrX:154064067-154250998 3 Sufficient evidence for dosage pathogenicity 2987704 23534532 23551875 0 No evidence available 2020-10-13 MONDO:0010602 F9 2158 Xq27.1 chrX:138612898-138645618 3 Sufficient evidence for dosage pathogenicity 20301668 29296726 0 No evidence available 2021-01-12 MONDO:0010604 FA2H 79152 16q23.1 chr16:74746867-74808718 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012866 FADD 8772 11q13.3 chr11:70049402-70053496 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013408 FAH 2184 15q25.1 chr15:80445131-80479291 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-09-02 MONDO:0010161 FAM161A 84140 2p15 chr2:62051983-62081195 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011630 FAM20C 56975 7p22.3 chr7:192571-300738 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009821 FAN1 22909 15q13.3 chr15:31196055-31235311 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013898 FANCA 2175 16q24.3 chr16:89803957-89883055 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2023-10-11 MONDO:0009215 FANCB 2187 Xp22.2 chrX:14861527-14891191 3 Sufficient evidence for dosage pathogenicity 15502827 29232005 21910217 16679491 0 No evidence available 2021-06-23 MONDO:0010351 FANCC 2176 9q22.32 chr9:97861336-98079991 30 Gene associated with autosomal recessive phenotype 9452108 20869034 23613520 37566130 32427313 17909071 0 No evidence available 2025-07-01 MONDO:0009213 FANCD2 2177 3p25.3 chr3:10068121-10143616 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2023-08-09 MONDO:0009214 FANCE 2178 6p21.31 chr6:35420115-35434879 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-06-12 MONDO:0010953 FANCF 2188 11p14.3 chr11:22644079-22647369 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2025-01-08 MONDO:0011325 FANCG 2189 9p13.3 chr9:35073836-35079939 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-11-15 MONDO:0013565 FANCI 55215 15q26.1 chr15:89787210-89860490 30 Gene associated with autosomal recessive phenotype 17452773 26590883 34310468 24623813 Not yet evaluated Not yet evaluated 2025-12-11 MONDO:0012186 FANCL 55120 2p16.1 chr2:58386378-58468515 30 Gene associated with autosomal recessive phenotype 32235514 0 No evidence available 2023-10-21 FANCM 57697 14q21.2 chr14:45605133-45670093 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2024-04-09 FARS2 10667 6p25.1 chr6:5261240-5771816 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009723 FAS 355 10q23.31 chr10:90750555-90776816 1 Little evidence for dosage pathogenicity 21490157 26563159 23524443 34171534 0 No evidence available 2022-02-08 MONDO:0017979 FASLG 356 1q24.3 chr1:172628243-172636016 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2023-10-11 MONDO:0011158 FBN1 2200 15q21.1 chr15:48700510-48937906 3 Sufficient evidence for dosage pathogenicity 17701892 30286810 21063442 0 No evidence available 2019-12-04 MONDO:0007947 FBN2 2201 5q23.3 chr5:127593601-127873938 0 No evidence available 0 No evidence available 2024-02-28 FBP1 2203 9q22.32 chr9:97365415-97402545 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009251 FBXO7 25793 22q12.3 chr22:32870798-32894816 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009830 FBXW11 23291 5q35.1 chr5:171288553-171433642 0 No evidence available 1 Little evidence for dosage pathogenicity 16865294 2011-12-07 FBXW4 6468 10q24.32 chr10:103370423-103455052 0 No evidence available 0 No evidence available 2014-10-08 MONDO:0009525 FGD1 2245 Xp11.22 chrX:54471887-54522667 3 Sufficient evidence for dosage pathogenicity 17152066 20082460 16353258 19110080 28103835 33067218 0 No evidence available 2021-05-26 MONDO:0010589 FGD4 121512 12p11.21 chr12:32552492-32798984 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012250 FGF10 2255 5p12 chr5:44300349-44389522 3 Sufficient evidence for dosage pathogenicity 15654336 16630169 19102732 0 No evidence available 2022-02-23 MONDO:0007872 FGF12 2257 3q28-q29 chr3:191857179-192445330 0 No evidence available 25217958 25232849 28446957 1 Little evidence for dosage pathogenicity 32524056 2021-12-01 MONDO:0100062 FGF3 2248 11q13.3 chr11:69624736-69634184 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012541 FGFR1 2260 8p11.23 chr8:38268661-38326153 3 Sufficient evidence for dosage pathogenicity 12627230 15605412 19489874 0 No evidence available 2021-04-05 MONDO:0007844 FGFR3 2261 4p16.3 chr4:1795020-1810594 0 No evidence available 0 No evidence available 21815251 20197130 2011-11-09 FGFRL1 53834 4p16.3 chr4:1005414-1020686 0 No evidence available 0 No evidence available 2013-08-01 FH 2271 1q43 chr1:241660903-241683055 3 Sufficient evidence for dosage pathogenicity 21398687 0 No evidence available 2020-07-06 MONDO:0007888 FHIT 2272 3p14.2 chr3:59733003-61237126 0 No evidence available 17363630 2337565 0 No evidence available 27113213 2018-10-24 FKBP14 55033 7p14.3 chr7:30050203-30066318 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013800 FLCN 201163 17p11.2 chr17:17115526-17140482 3 Sufficient evidence for dosage pathogenicity 22146830 20413710 21412933 35639097 35637701 33927747 0 No evidence available 2023-01-11 MONDO:0800444 FLG 2312 1q21.3 chr1:152274641-152297715 3 Sufficient evidence for dosage pathogenicity 16444271 27793761 27667308 0 No evidence available 2020-02-26 MONDO:0015947 FLNA 2316 Xq28 chrX:153576899-153603002 3 Sufficient evidence for dosage pathogenicity 16684786 23032111 26471271 0 No evidence available 24098143 2020-12-02 MONDO:0010233 FLNB 2317 3p14.3 chr3:57994149-58157978 0 No evidence available 0 No evidence available 2013-07-25 FLNC 2318 7q32.1 chr7:128470460-128499326 3 Sufficient evidence for dosage pathogenicity 28008423 27908349 28436997 30067491 0 No evidence available 2021-07-13 MONDO:0005021 FLVCR2 55640 14q24.3 chr14:76044963-76114510 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009168 FMO2 2327 1q24.3 chr1:171154347-171181825 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 FMR1 2332 Xq27.3 chrX:146993437-147032645 3 Sufficient evidence for dosage pathogenicity 1642231 7670500 8069307 0 No evidence available 2020-12-16 MONDO:0010383 FOLR1 2348 11q13.4 chr11:71900753-71907367 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2019-06-25 MONDO:0013110 FOSL2 2355 2p23.2 chr2:28615725-28640184 0 No evidence available 0 No evidence available 2024-12-10 MONDO:0968978 FOXC1 2296 6p25.3 chr6:1610150-1614132 3 Sufficient evidence for dosage pathogenicity 11170889 17653043 16936096 0 No evidence available 2020-07-29 MONDO:0011233 FOXC2 2303 16q24.1 chr16:86600435-86603334 3 Sufficient evidence for dosage pathogenicity 11078474 11694548 21918810 0 No evidence available 2013-11-26 MONDO:0007922 FOXE1 2304 9q22.33 chr9:100615508-100618999 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009437 FOXE3 2301 1p33 chr1:47881957-47883724 0 No evidence available 0 No evidence available 2017-12-13 FOXF1 2294 16q24.1 chr16:86544133-86549028 3 Sufficient evidence for dosage pathogenicity 23505205 0 No evidence available 2013-06-20 MONDO:0009934 FOXG1 2290 14q12 chr14:29235993-29239483 3 Sufficient evidence for dosage pathogenicity 28661489 24836831 29655203 24139857 19578037 18571142 0 No evidence available 2021-03-09 MONDO:0100040 FOXL2 668 3q22.3 chr3:138663066-138665979 3 Sufficient evidence for dosage pathogenicity 28924383 15962237 20232352 11468277 29339661 18726931 0 No evidence available 2021-02-09 MONDO:0007201 FOXP1 27086 3p13 chr3:71003859-71633129 3 Sufficient evidence for dosage pathogenicity 29090079 20848658 20950788 0 No evidence available 2020-01-22 MONDO:0013352 FOXP2 93986 7q31.1 chr7:113726382-114333820 3 Sufficient evidence for dosage pathogenicity 15877281 23918746 27572252 36328423 0 No evidence available 2025-04-08 MONDO:0016226 FOXRED1 55572 11q24.2 chr11:126139049-126148021 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009723 FRMD7 90167 Xq26.2 chrX:131211018-131262048 3 Sufficient evidence for dosage pathogenicity 17013395 20450309 28378818 0 No evidence available 2020-04-09 MONDO:0010693 FSHB 2488 11p14.1 chr11:30252561-30256741 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009239 FTCD 10841 21q22.3 chr21:47556176-47575493 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009240 FTL 2512 19q13.33 chr19:49468566-49470136 0 No evidence available 0 No evidence available 2013-08-22 FTSJ1 24140 Xp11.23 chrX:48334409-48344752 2 Some evidence for dosage pathogenicity 15162322 15342698 18081026 31170314 31981491 36720500 0 No evidence available 2023-03-22 MONDO:0019181 FXN 2395 9q21.11 chr9:71650668-71693992 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0100340 FYCO1 79443 3p21.31 chr3:45959395-46037316 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-05-20 MONDO:0012395 FZD4 8322 11q14.2 chr11:86656721-86666437 3 Sufficient evidence for dosage pathogenicity 12172548 14507768 25711638 26244290 34860240 35394490 0 No evidence available 2023-01-25 MONDO:0007589 G6PC3 92579 17q21.31 chr17:42148041-42153712 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-04-30 MONDO:0012930 GAA 2548 17q25.3 chr17:78075380-78093680 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009290 GAB4 128954 22q11.1 chr22:17442826-17489112 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 GABRA1 2554 5q34 chr5:161274197-161326977 1 Little evidence for dosage pathogenicity 16718694 21714819 27613244 28554332 29655203 16123039 0 No evidence available 2021-11-09 MONDO:0100038 GABRB3 2562 15q12 chr15:26788699-27018910 0 No evidence available 0 No evidence available 2012-04-25 GALC 2581 14q31.3 chr14:88399358-88460009 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009499 GALK1 2584 17q25.1 chr17:73747550-73761273 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009255 GALNS 2588 16q24.3 chr16:88880142-88923355 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009659 GALNT12 79695 9q22.33 chr9:101569952-101612363 1 Little evidence for dosage pathogenicity 29749045 19617566 22461326 0 No evidence available 2019-09-09 MONDO:0012132 GALNT3 2591 2q24.3 chr2:166604098-166650757 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0100252 GALR1 2587 18q23 chr18:74961804-74989856 0 No evidence available 0 No evidence available 2012-07-06 GALT 2592 9p13.3 chr9:34646672-34651032 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009258 GAMT 2593 19p13.3 chr19:1397025-1401541 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012999 GAN 8139 16q23.2 chr16:81348567-81424414 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009749 GATA1 2623 Xp11.23 chrX:48644998-48652718 0 No evidence available 0 No evidence available 2020-10-14 GATA2 2624 3q21.3 chr3:128198265-128212044 3 Sufficient evidence for dosage pathogenicity 21892158 21670465 22147895 33759087 34893945 34638133 0 No evidence available 2023-04-12 MONDO:0013540 GATA3 2625 10p14 chr10:8096651-8117161 3 Sufficient evidence for dosage pathogenicity 10935639 11389161 27387476 0 No evidence available 2020-06-24 MONDO:0007797 GATA4 2626 8p23.1 chr8:11534444-11617511 3 Sufficient evidence for dosage pathogenicity 12845333 15863664 24000169 0 No evidence available 2017-02-08 MONDO:0011938 GATA6 2627 18q11.2 chr18:19749550-19782491 3 Sufficient evidence for dosage pathogenicity 22158542 23223019 23635550 0 No evidence available 2013-06-20 MONDO:0010802 GATAD1 57798 7q21.2 chr7:92076796-92089389 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013848 GATAD2B 57459 1q21.3 chr1:153777201-153895448 3 Sufficient evidence for dosage pathogenicity 23644463 28077840 27848944 0 No evidence available 2017-12-27 MONDO:0014034 GBA 2629 1q22 chr1:155204243-155214418 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0018150 GBA2 57704 9p13.3 chr9:35736863-35749225 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013737 GBE1 2632 3p12.2 chr3:81538854-81810796 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009292 GCDH 2639 19p13.13 chr19:13001943-13010813 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009281 GCH1 2643 14q22.2 chr14:55308735-55369544 3 Sufficient evidence for dosage pathogenicity 17898029 19491146 17111153 0 No evidence available 2023-02-14 MONDO:0007495 GCK 2645 7p13 chr7:44182812-44229038 3 Sufficient evidence for dosage pathogenicity 1570017 23085272 27269892 33852230 19790256 0 No evidence available 2025-10-22 MONDO:0015967 GCSH 2653 16q23.2 chr16:81115550-81130000 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011612 GDF2 2658 10q11.22 chr10:48411774-48416908 0 No evidence available 0 No evidence available 2016-10-13 GDF5 8200 20q11.22 chr20:34021145-34042571 3 Sufficient evidence for dosage pathogenicity 33333243 9288091 18283415 12567410 0 No evidence available 2021-02-24 MONDO:0007221 GDI1 2664 Xq28 chrX:153665500-153671814 1 Little evidence for dosage pathogenicity 9620768 22002931 0 No evidence available 2022-06-22 MONDO:0010451 GEN1 348654 2p24.2 chr2:17935136-17970213 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 GFER 2671 16p13.3 chr16:2034194-2037750 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013116 GFI1 2672 1p22.1 chr1:92938600-92952482 0 No evidence available 0 No evidence available 2024-07-22 GFI1B 8328 9q34.13 chr9:135820918-135867074 0 No evidence available 0 No evidence available 2025-08-27 MONDO:0008553 GFM1 85476 3q25.32 chr3:158362316-158413370 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012191 GIGYF2 26058 2q37.1 chr2:233562041-233725315 1 Little evidence for dosage pathogenicity 25170348 25363768 27824329 28714951 0 No evidence available 2022-08-24 MONDO:0100038 GIPC3 126326 19p13.3 chr19:3585476-3593539 30 Gene associated with autosomal recessive phenotype 21326233 21660509 0 No evidence available 2016-08-22 MONDO:0011160 GJA1 2697 6q22.31 chr6:121756792-121770873 0 No evidence available 0 No evidence available 2013-11-20 GJA5 2702 1q21.2 chr1:147228332-147245455 1 Little evidence for dosage pathogenicity 20818502 0 No evidence available 2012-02-23 GJA8 2703 1q21.2 chr1:147374921-147381396 0 No evidence available 18006672 31844091 34722561 37337769 25148791 0 No evidence available 2025-04-08 GJB6 10804 13q12.11 chr13:20796101-20806458 0 No evidence available 0 No evidence available 2014-01-30 GK 2710 Xp21.2 chrX:30671540-30749579 3 Sufficient evidence for dosage pathogenicity 8651297 9719371 10851254 0 No evidence available 2012-09-06 MONDO:0010613 GLA 2717 Xq22.1 chrX:100652791-100662913 3 Sufficient evidence for dosage pathogenicity 27560961 30988410 11322659 0 No evidence available 2021-03-24 MONDO:0010526 GLB1 2720 3p22.3 chr3:33038109-33138638 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-25 MONDO:0018149 GLDC 2731 9p24.1 chr9:6532467-6645729 30 Gene associated with autosomal recessive phenotype 22171071 0 No evidence available 2016-06-10 MONDO:0011612 GLI2 2736 2q14.2 chr2:121493444-121750229 3 Sufficient evidence for dosage pathogenicity 14581620 21204792 24744436 0 No evidence available 2021-01-11 MONDO:0012563 GLI3 2737 7p14.1 chr7:42000547-42276808 3 Sufficient evidence for dosage pathogenicity 15739154 21326280 29236091 0 No evidence available 2021-01-12 MONDO:0008287 GLIS3 169792 9p24.2 chr9:3824127-4300068 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012436 GLMN 11146 1p22.1 chr1:92711959-92764544 3 Sufficient evidence for dosage pathogenicity 11845407 15689436 22092580 0 No evidence available 2013-07-18 MONDO:0007672 GLRB 2743 4q32.1 chr4:157997302-158093242 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013828 GLUL 2752 1q25.3 chr1:182347233-182360925 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-06-04 MONDO:0012393 GMPPA 29926 2q35 chr2:220363613-220371711 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014219 GNAI1 2770 7q21.11 chr7:79764147-79855497 0 No evidence available 33473207 31164858 0 No evidence available 2023-03-28 MONDO:0100038 GNAI3 2773 1p13.3 chr1:110091237-110142817 0 No evidence available 0 No evidence available 2013-07-18 GNAO1 2775 16q13 chr16:56225401-56391356 1 Little evidence for dosage pathogenicity 25533962 28357411 30103967 32056211 28747448 0 No evidence available 2022-05-10 MONDO:0100062 GNAS 2778 20q13.32 chr20:57414803-57486247 3 Sufficient evidence for dosage pathogenicity 9876352 11095461 11600516 0 No evidence available 2021-01-12 MONDO:0012912 GNB1 2782 1p36.33 chr1:1716725-1822526 1 Little evidence for dosage pathogenicity 28087732 0 No evidence available 2019-01-23 MONDO:0100465 GNB4 59345 3q26.33 chr3:179113876-179169258 0 No evidence available 0 No evidence available 2026-01-13 MONDO:0015626 GNPAT 8443 1q42.2 chr1:231376958-231413719 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009112 GNRH1 2796 8p21.2 chr8:25276774-25282556 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013914 GNS 2799 12q14.3 chr12:65107229-65153186 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009658 GOLGA2P2Y 84559 Yq11.23 chrY:26356114-26360978 0 No evidence available 0 No evidence available 2012-08-22 GORAB 92344 1q24.2 chr1:170501307-170522975 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009271 GP1BB 2812 22q11.21 chr22:19711062-19712294 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009276 GP6 51206 19q13.42 chr19:55525073-55549632 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013623 GPC3 2719 Xq26.2 chrX:132669773-133119621 3 Sufficient evidence for dosage pathogenicity 30447178 21362501 10814714 0 No evidence available 2021-01-27 MONDO:0020602 GPC5 2262 13q31.3 chr13:92050875-93519490 0 No evidence available 0 No evidence available 2012-03-08 GPC6 10082 13q31.3-q32.1 chr13:93879060-95060274 30 Gene associated with autosomal recessive phenotype 0 No evidence available 19941983 2011-11-17 MONDO:0009779 GPD1 2819 12q13.12 chr12:50497791-50505096 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013771 GPHN 10243 14q23.3-q24.1 chr14:66974865-67648520 1 Little evidence for dosage pathogenicity 23393157 24643514 23184456 0 No evidence available 2024-06-11 MONDO:0100038 GPIHBP1 338328 8q24.3 chr8:144295093-144299044 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014412 GPR148 344561 2q21.1 chr2:131486643-131487909 0 No evidence available 0 No evidence available 2018-04-05 GPR179 440435 17q12 chr17:36480454-36499839 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013807 GPSM2 29899 1p13.3 chr1:109419607-109477167 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011411 GPX4 2879 19p13.3 chr19:1103993-1106778 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009593 GRB10 2887 7p12.1 chr7:50657765-50861150 0 No evidence available 0 No evidence available 2012-03-23 GREM1 26585 15q13.3 chr15:33010205-33037307 0 No evidence available 0 No evidence available 2020-08-20 GRHPR 9380 9p13.2 chr9:37422693-37436987 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009824 GRIA3 2892 Xq25 chrX:122318131-122624766 1 Little evidence for dosage pathogenicity 17568425 19449417 17989220 25644381 36863698 35031858 0 No evidence available 2024-03-28 MONDO:0010402 GRID1 2894 10q23.1-q23.2 chr10:87359309-88126552 0 No evidence available 0 No evidence available 2011-12-21 GRIK2 2898 6q16.3 chr6:101841584-102517958 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-09-05 MONDO:0012614 GRIN2A 2903 16p13.2 chr16:9847261-10276765 3 Sufficient evidence for dosage pathogenicity 20890276 23933820 23933819 28109652 30544257 0 No evidence available 2024-09-25 MONDO:0100038 GRIN2B 2904 12p13.1 chr12:13690271-14134536 3 Sufficient evidence for dosage pathogenicity 23160955 20890276 28377535 0 No evidence available 2019-09-25 MONDO:0013509 GRIN3B 116444 19p13.3 chr19:1000418-1009731 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 GRIP1 23426 12q14.3 chr12:66741211-67463118 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-07-10 MONDO:0054737 GRM1 2911 6q24.3 chr6:146348843-146758737 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013905 GRM6 2916 5q35.3 chr5:178405328-178422321 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009758 GRXCR1 389207 4p13 chr4:42894730-43032675 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-03-06 MONDO:0013210 GSDMD 79792 8q24.3 chr8:144635557-144645232 0 No evidence available 0 No evidence available 2024-03-27 GTF2H5 404672 6q25.3 chr6:158589382-158620376 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014619 GTF2I 2969 7q11.23 chr7:74072044-74175022 0 No evidence available 0 No evidence available 2012-08-08 GTF2IRD1 9569 7q11.23 chr7:73868236-74016931 0 No evidence available 0 No evidence available 2012-10-10 GTF2IRD2 84163 7q11.23 chr7:74210490-74267901 0 No evidence available 0 No evidence available 2013-12-04 GUCA1C 9626 3q13.13 chr3:108626639-108672726 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 GUCY2C 2984 12p12.3 chr12:14765566-14849533 0 No evidence available 0 No evidence available 2013-09-18 GUSB 2990 7q11.21 chr7:65425671-65447200 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-10-11 MONDO:0009662 GYS2 2998 12p12.1 chr12:21689041-21757781 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009414 H1-4 3008 6p22.2 chr6:26156557-26157343 0 No evidence available 28475857 29704315 29383847 31447100 0 No evidence available 2022-07-27 MONDO:0044323 H19 283120 11p15.5 chr11:2016406-2022696 0 No evidence available 0 No evidence available 2012-03-22 H6PD 9563 1p36.22 chr1:9294833-9331396 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011503 HBA1 3039 16p13.3 chr16:226679-227521 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-19 MONDO:0011399 HBA2 3040 16p13.3 chr16:222875-223709 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-07-06 MONDO:0011399 HDAC4 9759 2q37.3 chr2:239969864-240323343 1 Little evidence for dosage pathogenicity 20691407 35937050 35982159 33057194 31502745 0 No evidence available 2024-07-16 MONDO:0010886 HDAC8 55869 Xq13.1 chrX:71549366-71792693 3 Sufficient evidence for dosage pathogenicity 22885700 24403048 26671848 0 No evidence available 2018-03-28 MONDO:0010471 HEXB 3074 5q13.3 chr5:73935848-74017113 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010006 HFE 3077 6p22.2 chr6:26087657-26098571 30 Gene associated with autosomal recessive phenotype 22093335 20117027 17951290 24920245 18809761 0 No evidence available 2024-04-08 MONDO:0006507 HFM1 164045 1p22.2 chr1:91726323-91870394 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014322 HGF 3082 7q21.11 chr7:81328326-81399363 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012003 HGSNAT 138050 8p11.21-p11.1 chr8:42995607-43057998 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009657 HIRA 7290 22q11.21 chr22:19318221-19419256 0 No evidence available 0 No evidence available 2012-08-28 HIVEP2 3097 6q24.2 chr6:143072606-143266313 3 Sufficient evidence for dosage pathogenicity 27003583 26153216 23020937 0 No evidence available 2018-04-25 MONDO:0014858 HIVEP3 59269 1p34.2 chr1:41972036-42501605 1 Little evidence for dosage pathogenicity 29302074 27824329 25849321 0 No evidence available 2019-01-23 MONDO:0100038 HJV 148738 1q21.1 chr1:145413278-145417543 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011216 HLCS 3141 21q22.13 chr21:38120926-38362511 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009666 HMBS 3145 11q23.3 chr11:118955591-118964259 3 Sufficient evidence for dosage pathogenicity 19460837 12372055 10790212 0 No evidence available 2020-01-08 MONDO:0008294 HMGA2 8091 12q14.3 chr12:66218240-66360071 1 Little evidence for dosage pathogenicity 21803798 25809938 29655892 28796236 32421827 33482836 0 No evidence available 31900140 2021-09-14 MONDO:0020795 HNF1A 6927 12q24.31 chr12:121416346-121440315 3 Sufficient evidence for dosage pathogenicity 12574234 11668618 8945470 9097962 9166684 0 No evidence available 2023-12-13 MONDO:0010894 HNF1B 6928 17q12 chr17:36046434-36105050 3 Sufficient evidence for dosage pathogenicity 10720943 15068978 9398836 0 No evidence available 2020-12-21 MONDO:0007669 HNF4A 3172 20q13.12 chr20:42984339-43063236 3 Sufficient evidence for dosage pathogenicity 21105491 23348805 34789499 31968686 20164212 29927023 0 No evidence available 2025-07-23 MONDO:0015967 HNRNPC 3183 14q11.2 chr14:21677306-21737601 1 Little evidence for dosage pathogenicity 37541189 0 No evidence available 2023-11-29 MONDO:0100038 HNRNPDL 9987 4q21.22 chr4:83343717-83351615 0 No evidence available 33131168 0 No evidence available 2025-04-08 MONDO:0015151 HNRNPK 3190 9q21.32 chr9:86582998-86595530 3 Sufficient evidence for dosage pathogenicity 26173930 26954065 29904177 36130591 0 No evidence available 2023-08-23 MONDO:0018681 HNRNPU 3192 1q44 chr1:245013599-245027845 3 Sufficient evidence for dosage pathogenicity 28944577 28815871 28393272 32319732 35138025 0 No evidence available 2024-11-27 MONDO:0100038 HOMER2 9455 15q25.2 chr15:83517735-83621472 0 No evidence available 0 No evidence available 2026-02-10 MONDO:0014740 HOXD13 3239 2q31.1 chr2:176957449-176960672 3 Sufficient evidence for dosage pathogenicity 31611522 22233338 9758628 0 No evidence available 2020-09-23 MONDO:0008513 HOXD9 3235 2q31.1 chr2:176987447-176989665 0 No evidence available 0 No evidence available 2012-02-22 HPGD 3248 4q34.1 chr4:175411326-175444044 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0024546 HPRT1 3251 Xq26.2-q26.3 chrX:133594195-133634698 3 Sufficient evidence for dosage pathogenicity 11018746 0 No evidence available 2021-01-13 MONDO:0010298 HPS1 3257 10q24.2 chr10:100175955-100206692 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008748 HPS3 84343 3q24 chr3:148847425-148891519 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013555 HPSE2 60495 10q24.2 chr10:100216834-100995632 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-11 MONDO:0009368 HRAS 3265 11p15.5 chr11:532242-535576 0 No evidence available 0 No evidence available 2024-07-15 HSD17B10 3028 Xp11.22 chrX:53458206-53461323 0 No evidence available 0 No evidence available 2012-09-06 HSD17B13 345275 4q22.1 chr4:88224946-88244034 40 Dosage sensitivity unlikely 32487729 22344438 26940866 32461654 0 No evidence available 2021-02-02 HSD17B3 3293 9q22.32 chr9:98997588-99064458 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009916 HSD17B4 3295 5q23.1 chr5:118788192-118878027 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-03-06 MONDO:0009300 HSD3B7 80270 16p11.2 chr16:30996528-31000468 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011906 HSPB8 26353 12q24.23 chr12:119616736-119632551 0 No evidence available 0 No evidence available 2025-11-18 MONDO:0976133 HSPG2 3339 1p36.12 chr1:22148737-22263803 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-06-02 MONDO:0009717 HTN3 3347 4q13.3 chr4:70894176-70902255 40 Dosage sensitivity unlikely 32487729 22344438 32461654 0 No evidence available 2021-02-02 HUWE1 10075 Xp11.22 chrX:53559057-53713664 0 No evidence available 0 No evidence available 2018-09-26 MONDO:0010407 MONDO:0010407 HYLS1 219844 11q24.2 chr11:125753509-125770541 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009365 HYMAI 57061 6q24.2 chr6:144326053-144329867 0 No evidence available 0 No evidence available 2012-09-06 IDS 3423 Xq28 chrX:148558519-148586836 3 Sufficient evidence for dosage pathogenicity 22976768 24125893 0 No evidence available 2020-11-10 MONDO:0010674 IDUA 3425 4p16.3 chr4:980785-998352 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0001586 IFT140 9742 16p13.3 chr16:1560428-1662073 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009964 IFT27 11020 22q12.3 chr22:37154255-37172163 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014447 IFT43 112752 14q24.3 chr14:76452106-76550416 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013573 IGF1R 3480 15q26.3 chr15:99191768-99507759 3 Sufficient evidence for dosage pathogenicity 14657428 19240156 21811077 25866162 30848790 33113547 0 No evidence available 2022-11-08 MONDO:0010038 IGF2 3481 11p15.5 chr11:2150342-2170833 0 No evidence available 0 No evidence available 2012-03-22 IGF2R 3482 6q25.3 chr6:160390114-160532536 0 No evidence available 0 No evidence available 2012-06-07 IGHMBP2 3508 11q13.3 chr11:68671359-68708069 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011436 IGLL1 3543 22q11.23 chr22:23915312-23922477 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013287 IKBKG 8517 Xq28 chrX:153769453-153793261 3 Sufficient evidence for dosage pathogenicity 15229184 10839543 22121116 0 No evidence available 24721901 2020-11-10 MONDO:0010631 IKZF1 10320 7p12.2 chr7:50343660-50472799 3 Sufficient evidence for dosage pathogenicity 21548011 26981933 28927821 29681510 32845957 0 No evidence available 2025-10-09 MONDO:0014810 IL10RA 3587 11q23.3 chr11:117857109-117873752 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013153 IL17RA 23765 22q11.1 chr22:17565890-17596583 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013500 IL1RAPL1 11141 Xp21.3-p21.2 chrX:28605563-29974835 3 Sufficient evidence for dosage pathogenicity 26350204 21484992 21271657 25167861 18801879 22031302 0 No evidence available 2023-11-14 MONDO:0010256 IL21R 50615 16p12.1 chr16:27413495-27463363 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014082 IL2RA 3559 10p15.1 chr10:6052652-6104330 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011664 IMMP2L 83943 7q31.1 chr7:110302700-111202548 40 Dosage sensitivity unlikely 25478008 24549057 29152845 33849037 0 No evidence available 2022-04-12 MONDO:0007661 IMPA1 3612 8q21.13 chr8:82569149-82598560 0 No evidence available 0 No evidence available 2012-02-08 INF2 64423 14q32.33 chr14:105155955-105188872 0 No evidence available 0 No evidence available 2025-12-11 MONDO:0013758 INPP5E 56623 9q34.3 chr9:139323071-139334297 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008944 INS 3630 11p15.5 chr11:2181009-2182439 0 No evidence available 0 No evidence available 2012-03-22 IQSEC2 23096 Xp11.22 chrX:53262058-53350548 3 Sufficient evidence for dosage pathogenicity 30206421 23674175 36012761 24306141 25649377 0 No evidence available 2025-03-26 MONDO:0100148 IRAK4 51135 12q12 chr12:44152754-44183344 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011888 IRF2BPL 64207 14q24.3 chr14:77490886-77495051 1 Little evidence for dosage pathogenicity 30057031 30166628 34864472 38235039 36476864 0 No evidence available 2025-06-10 MONDO:0005559 IRF6 3664 1q32.2 chr1:209958962-209979487 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-07-06 MONDO:0007333 ITCH 83737 20q11.22 chr20:32951079-33099578 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013245 ITGA3 3675 17q21.33 chr17:48133474-48167845 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013881 ITGB2 3689 21q22.3 chr21:46305868-46348730 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0007293 ITGB3 3690 17q21.32 chr17:45331193-45391109 0 No evidence available 0 No evidence available 2012-08-27 ITPR1 3708 3p26.1 chr3:4535032-4889190 1 Little evidence for dosage pathogenicity 17932120 21555639 21367767 0 No evidence available 2023-10-12 MONDO:0020380 ITSN1 6453 21q22.11 chr21:35014807-35272165 1 Little evidence for dosage pathogenicity 24463507 25621899 34707297 38346866 0 No evidence available 2024-10-08 MONDO:0100038 IYD 389434 6q25.1 chr6:150690148-150727105 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010136 JAG1 182 20p12.2 chr20:10618332-10654647 3 Sufficient evidence for dosage pathogenicity 9585603 12497640 16575836 0 No evidence available 2020-10-19 MONDO:0016862 JAM3 83700 11q25 chr11:133938967-134021896 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-06-11 MONDO:0013394 JARID2 3720 6p22.3 chr6:15246300-15522273 2 Some evidence for dosage pathogenicity 33077894 35533077 37762546 23294540 23324214 0 No evidence available 2024-06-11 MONDO:0700092 KANK1 23189 9p24.3 chr9:470295-746103 0 No evidence available 0 No evidence available 2016-04-28 KANSL1 284058 17q21.31 chr17:44107282-44302733 3 Sufficient evidence for dosage pathogenicity 22544363 22544367 0 No evidence available 2013-04-11 MONDO:0012496 KARS1 3735 16q23.1 chr16:75661622-75681563 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013489 KAT6A 7994 8p11.21 chr8:41786997-41909505 3 Sufficient evidence for dosage pathogenicity 25728777 27133397 25728775 0 No evidence available 2018-03-28 MONDO:0014558 KAT6B 23522 10q22.2 chr10:76585013-76792382 3 Sufficient evidence for dosage pathogenicity 22077973 22265014 25424711 0 No evidence available 2018-04-25 MONDO:0011365 KATNAL2 83473 18q21.1 chr18:44497557-44628614 1 Little evidence for dosage pathogenicity 22495311 22495309 28191889 0 No evidence available 2018-11-28 MONDO:0100038 KCNA2 3737 1p13.3 chr1:111136202-111174062 1 Little evidence for dosage pathogenicity 29050392 34469436 37236975 27457812 25950944 31054490 0 No evidence available 2025-05-28 MONDO:0100062 KCNC1 3746 11p15.1 chr11:17756328-17804604 1 Little evidence for dosage pathogenicity 28145425 31353855 31353862 0 No evidence available 2025-03-31 MONDO:0100038 KCNH1 3756 1q32.2 chr1:210851656-211307490 0 No evidence available 33494179 34312540 31175295 32938993 0 No evidence available 2023-06-28 MONDO:0100485 KCNH2 3757 7q36.1 chr7:150642049-150675409 3 Sufficient evidence for dosage pathogenicity 18774102 24530480 0 No evidence available 2020-02-26 MONDO:0002442 KCNJ1 3758 11q24.3 chr11:128707915-128737191 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-03-22 MONDO:0009424 KCNJ6 3763 21q22.13 chr21:38979675-39288760 0 No evidence available 0 No evidence available 2024-12-10 KCNK9 51305 8q24.3 chr8:140613081-140715366 0 No evidence available 0 No evidence available 2012-02-29 MONDO:0012856 KCNQ1 3784 11p15.5-p15.4 chr11:2466238-2870340 3 Sufficient evidence for dosage pathogenicity 26669661 29532034 23098067 0 No evidence available 2020-10-13 MONDO:0002442 KCNQ1OT1 10984 11p15.5 chr11:2629558-2721228 1 Little evidence for dosage pathogenicity 33177595 32447323 35772847 35772845 35906012 0 No evidence available 2023-12-06 MONDO:0008394 KCNQ2 3785 20q13.33 chr20:62031561-62104008 3 Sufficient evidence for dosage pathogenicity 17675531 14534157 0 No evidence available 2013-07-18 MONDO:0007365 KCNV2 169522 9p24.2 chr9:2717510-2730037 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012475 KCTD7 154881 7q11.21 chr7:66093868-66108216 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0020074 KDM5B 10765 1q32.1 chr1:202693623-202778598 1 Little evidence for dosage pathogenicity 24307393 28720891 25363768 0 No evidence available 2018-01-04 MONDO:0001071 KDM5C 8242 Xp11.22 chrX:53205459-53254389 3 Sufficient evidence for dosage pathogenicity 15586325 18697827 19826449 21575681 31419599 35904121 0 No evidence available 2023-07-27 MONDO:0020119 KDM6A 7403 Xp11.3 chrX:44732434-44972024 3 Sufficient evidence for dosage pathogenicity 22197486 23076834 0 No evidence available 2013-07-18 MONDO:0010465 KDM6B 23135 17p13.1 chr17:7737535-7758114 3 Sufficient evidence for dosage pathogenicity 37196654 31124279 25363768 0 No evidence available 2024-10-23 MONDO:0000508 KERA 11081 12q21.33 chr12:91444268-91451801 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009014 KHDC3L 154288 6q13 chr6:74072381-74073894 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013671 KIF11 3832 10q23.33 chr10:94352887-94415152 3 Sufficient evidence for dosage pathogenicity 22284827 22653704 0 No evidence available 2013-08-01 MONDO:0007918 KIF1A 547 2q37.3 chr2:241653184-241760820 0 No evidence available 0 No evidence available 2013-08-08 KIF1C 10749 17p13.2 chr17:4901245-4931696 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012651 KIF7 374654 15q26.1 chr15:90171208-90198698 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008708 KIFBP 26128 10q22.1 chr10:70748559-70776738 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012280 KISS1 3814 1q32.1 chr1:204159469-204165619 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013915 KIT 3815 4q12 chr4:55524124-55606881 3 Sufficient evidence for dosage pathogenicity 15194144 11174389 25355368 36438053 0 No evidence available 2024-05-08 MONDO:0008244 KLF14 136259 7q32.2 chr7:130415525-130418967 0 No evidence available 0 No evidence available 2012-04-28 KLF8 11279 Xp11.21 chrX:55934556-56317964 0 No evidence available 0 No evidence available 2012-10-12 KLK12 43849 19q13.41 chr19:51532350-51538258 40 Dosage sensitivity unlikely 32487729 22344438 32461654 0 No evidence available 2021-02-02 KMT2A 4297 11q23.3 chr11:118307207-118397547 3 Sufficient evidence for dosage pathogenicity 22795537 24818805 27759909 0 No evidence available 2018-05-23 MONDO:0011518 KMT2B 9757 19q13.12 chr19:36208905-36229779 3 Sufficient evidence for dosage pathogenicity 33098801 33150406 36288966 0 No evidence available 2025-05-13 MONDO:0100516 KMT2C 58508 7q36.1 chr7:151832010-152133088 3 Sufficient evidence for dosage pathogenicity 23375656 22726846 29069077 0 No evidence available 2018-01-24 MONDO:0000508 KMT2D 8085 12q13.12 chr12:49412761-49454577 3 Sufficient evidence for dosage pathogenicity 20711175 21671394 21607748 0 No evidence available 2020-01-23 MONDO:0007843 KMT2E 55904 7q22.3 chr7:104654652-104755466 3 Sufficient evidence for dosage pathogenicity 31079897 34321323 33681112 32691224 25284784 0 No evidence available 2021-12-29 MONDO:0032793 KMT5B 51111 11q13.2 chr11:67922330-67981115 3 Sufficient evidence for dosage pathogenicity 28191889 29276005 31238879 33004838 30559488 30564305 0 No evidence available 2023-06-13 MONDO:0100038 KRT24 192666 17q21.2 chr17:38854243-38860004 40 Dosage sensitivity unlikely 32487729 32461654 0 No evidence available 2021-02-02 KRT37 8688 17q21.2 chr17:39576799-39580837 40 Dosage sensitivity unlikely 32487729 32461654 0 No evidence available 2021-02-02 L1CAM 3897 Xq28 chrX:153126969-153151627 3 Sufficient evidence for dosage pathogenicity 19846429 23820807 0 No evidence available 23820807 2020-12-02 MONDO:0010611 L3MBTL1 26013 20q13.12 chr20:42136337-42179594 0 No evidence available 0 No evidence available 2012-08-29 LAMA1 284217 18p11.31 chr18:6941741-7117796 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014419 LAMA2 3908 6q22.33 chr6:129204283-129837711 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-11-28 MONDO:0100228 LAMA3 3909 18q11.2 chr18:21269417-21535030 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0017612 LAMC2 3918 1q25.3 chr1:183155399-183214262 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0017612 LAMP2 3920 Xq24 chrX:119560003-119603204 3 Sufficient evidence for dosage pathogenicity 20173215 19588270 19057086 27145725 10972294 16565504 0 No evidence available 2021-02-09 MONDO:0010281 LARGE1 9215 22q12.3 chr22:33668495-34318812 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0018276 LBR 3930 1q42.12 chr1:225589204-225616523 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-02-23 MONDO:0008974 LBX1 10660 10q24.32 chr10:102986751-102989220 0 No evidence available 0 No evidence available 2014-08-21 MONDO:0009525 LCA5 167691 6q14.1 chr6:80194708-80247147 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011473 LCT 3938 2q21.3 chr2:136545420-136594754 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009115 LDLR 3949 19p13.2 chr19:11200139-11244496 3 Sufficient evidence for dosage pathogenicity 33740630 15321837 0 No evidence available 2021-10-27 MONDO:0007750 LEMD3 23592 12q14.3 chr12:65563363-65642135 3 Sufficient evidence for dosage pathogenicity 15489854 17087626 19438932 0 No evidence available 2020-10-19 MONDO:0008157 LEO1 123169 15q21.2 chr15:52230222-52263975 1 Little evidence for dosage pathogenicity 33004838 25363760 28135719 0 No evidence available 2025-03-14 MONDO:0700092 LEPR 3953 1p31.3 chr1:65886335-66107242 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013992 LETM1 3954 4p16.3 chr4:1813206-1857883 0 No evidence available 0 No evidence available 2012-02-03 MONDO:0008684 LFNG 3955 7p22.3 chr7:2552163-2568811 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012349 LGI1 9211 10q23.33 chr10:95517693-95557916 3 Sufficient evidence for dosage pathogenicity 11810107 15009222 15349881 35643238 22496201 33453592 0 No evidence available 2025-07-08 MONDO:0010898 LHX3 8022 9q34.3 chr9:139088096-139096974 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009091 LHX4 89884 1q25.2 chr1:180199399-180248119 1 Little evidence for dosage pathogenicity 11567216 18445675 23029363 25955177 27820671 0 No evidence available 2022-04-25 MONDO:0009880 LIG4 3981 13q33.3 chr13:108859790-108870697 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011686 LIMK1 3984 7q11.23 chr7:73498134-73536855 0 No evidence available 0 No evidence available 2012-08-22 LINS1 55180 15q26.3 chr15:101107129-101142389 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013702 LIPA 3988 10q23.31 chr10:90973329-91011532 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0800449 LITAF 9516 16p13.13 chr16:11641578-11681322 0 No evidence available 0 No evidence available 2016-10-21 LMAN1 3998 18q21.32 chr18:56995055-57026497 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009206 LMBR1 64327 7q36.3 chr7:156461706-156685877 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-10-18 MONDO:0008700 LMNA 4000 1q22 chr1:156052364-156109872 3 Sufficient evidence for dosage pathogenicity 31983221 31476771 0 No evidence available 2023-12-14 MONDO:0005021 LMNB1 4001 5q23.2 chr5:126112315-126172712 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 16951681 23649844 28769756 30697589 2023-10-25 MONDO:0008215 LMTK3 114783 19q13.33 chr19:48988528-49016446 1 Little evidence for dosage pathogenicity 28263302 22542183 0 No evidence available 2018-07-25 LMX1B 4010 9q33.3 chr9:129376207-129463311 3 Sufficient evidence for dosage pathogenicity 9618165 9837817 18414507 0 No evidence available 2020-11-10 MONDO:0008061 LOXHD1 125336 18q21.1 chr18:44056924-44237183 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013119 LPAR6 10161 13q14.2 chr13:48985274-49018805 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010206 LPIN2 9663 18p11.31 chr18:2916992-3013142 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012316 LRAT 9227 4q32.1 chr4:155661990-155674272 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013231 LRBA 987 4q31.3 chr4:151185587-151936879 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013863 LRP2 4036 2q31.1 chr2:169983619-170219044 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2019-04-24 MONDO:0009104 LRP5 4041 11q13.2 chr11:68080059-68216743 1 Little evidence for dosage pathogenicity 15024691 34860240 25711638 28867931 30452590 35133048 0 No evidence available 2024-04-09 MONDO:0011151 LRPAP1 4043 4p16.3 chr4:3505339-3534149 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014183 LRPPRC 10128 2p21 chr2:44113363-44223128 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-03-20 MONDO:0009069 LRRC6 23639 8q24.22 chr8:133582664-133687791 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013979 LSS 4047 21q22.3 chr21:47608360-47648688 0 No evidence available 0 No evidence available 2012-09-06 LYRM7 90624 5q23.3-q31.1 chr5:130506637-130541121 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014364 LYST 1130 1q42.3 chr1:235824331-236047013 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008963 MAD2L2 10459 1p36.22 chr1:11734537-11751616 0 No evidence available 28881617 0 No evidence available 2023-10-20 MAFB 9935 20q12 chr20:39314488-39317876 0 No evidence available 0 No evidence available 2015-05-21 MAGEL2 54551 15q11.2 chr15:23888696-23893014 1 Little evidence for dosage pathogenicity 0 No evidence available 2025-10-22 MONDO:0014243 MAGT1 84061 Xq21.1 chrX:77081244-77151065 3 Sufficient evidence for dosage pathogenicity 21796205 23846901 24550228 25504528 31714901 32451662 0 No evidence available 2021-09-22 MONDO:0010455 MALT1 10892 18q21.32 chr18:56338697-56421709 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014197 MAN2B1 4125 19p13.13 chr19:12757326-12777556 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009561 MAP2K1 5604 15q22.31 chr15:66679250-66783882 0 No evidence available 0 No evidence available 2015-10-13 MAP3K1 4214 5q11.2 chr5:56111376-56191979 0 No evidence available 0 No evidence available 2013-08-22 MAPKBP1 23005 15q15.1 chr15:42066682-42120053 30 Gene associated with autosomal recessive phenotype 28089251 32505465 33623699 35140360 0 No evidence available 2025-06-26 MONDO:0014997 MAPT 4137 17q21.31 chr17:43971920-44105700 0 No evidence available 0 No evidence available 2012-05-08 MARVELD2 153562 5q13.2 chr5:68710943-68740157 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012420 MASP2 10747 1p36.22 chr1:11086580-11107296 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013423 MATN3 4148 2p24.1 chr2:20191813-20212429 0 No evidence available 0 No evidence available 2014-03-12 MAX 4149 14q23.3 chr14:65472819-65569413 3 Sufficient evidence for dosage pathogenicity 21685915 22452945 33815275 28384794 0 No evidence available 2021-07-20 MONDO:0017366 MBD5 55777 2q23.1 chr2:148778580-149274540 3 Sufficient evidence for dosage pathogenicity 23422940 37463579 33912662 22726846 22495309 29801487 0 No evidence available 2025-08-29 MONDO:0100038 MC2R 4158 18p11.21 chr18:13882043-13915706 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0024536 MCCC1 56922 3q27.1 chr3:182733006-182817375 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008861 MCEE 84693 2p13.3 chr2:71336817-71357359 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-25 MONDO:0009615 MCFD2 90411 2p21 chr2:47129009-47168994 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013331 MCPH1 79648 8p23.1 chr8:6264148-6506029 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009617 MECP2 4204 Xq28 chrX:153287024-153363174 3 Sufficient evidence for dosage pathogenicity 31206249 10508514 16647997 0 No evidence available 2021-02-22 MONDO:0010726 MONDO:0010283 MED13L 23389 12q24.21 chr12:116396381-116715498 3 Sufficient evidence for dosage pathogenicity 24781760 25712080 25106414 29959045 33930262 0 No evidence available 25106414 2023-08-08 MONDO:0000508 MEF2C 4208 5q14.3 chr5:88012934-88199922 3 Sufficient evidence for dosage pathogenicity 23389741 20513142 19592390 1 Little evidence for dosage pathogenicity 2020-02-26 MONDO:0013266 MEFV 4210 16p13.3 chr16:3292027-3306633 0 No evidence available 0 No evidence available 2018-08-16 MEG3 55384 14q32.2 chr14:101292445-101327363 1 Little evidence for dosage pathogenicity 20585555 24801763 31301299 0 No evidence available 2024-09-12 MONDO:0016779 MEIS2 4212 15q14 chr15:37181405-37393512 3 Sufficient evidence for dosage pathogenicity 30291340 30735726 27225850 28934986 20425846 24678003 0 No evidence available 2021-09-14 MONDO:0000508 MEN1 4221 11q13.1 chr11:64570986-64578766 3 Sufficient evidence for dosage pathogenicity 32780883 31044390 32430905 0 No evidence available 2022-01-12 MONDO:0007540 MEST 4232 7q32.2 chr7:130126016-130146306 0 No evidence available 0 No evidence available 2012-04-04 MET 4233 7q31.2 chr7:116312250-116438431 0 No evidence available 0 No evidence available 2012-09-06 METTL23 124512 17q25.1 chr17:74722123-74729963 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014409 MFHAS1 9258 8p23.1 chr8:8640864-8751140 0 No evidence available 0 No evidence available 2012-02-08 MFN2 9927 1p36.22 chr1:12040501-12073565 0 No evidence available 0 No evidence available 2017-02-02 MFRP 83552 11q23.3 chr11:119209652-119217415 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012605 MFSD8 256471 4q28.2 chr4:128838887-128887118 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012588 MGP 4256 12p12.3 chr12:15033798-15038788 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2021-02-08 MONDO:0009495 MID1 4281 Xp22.2 chrX:10413350-10851802 3 Sufficient evidence for dosage pathogenicity 23791568 29456483 32656166 9354791 11030761 17221865 0 No evidence available 2021-08-23 MONDO:0010222 MID2 11043 Xq22.3 chrX:107068965-107174867 0 No evidence available 0 No evidence available 2012-07-25 MITF 4286 3p13 chr3:69788615-70017483 3 Sufficient evidence for dosage pathogenicity 27889061 31427586 30936914 20127975 0 No evidence available 2021-04-13 MONDO:0008671 MKKS 8195 20p12.2 chr20:10381657-10414870 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0015229 MLC1 23209 22q13.33 chr22:50497820-50524304 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0024555 MLH1 4292 3p22.2 chr3:37035009-37092337 3 Sufficient evidence for dosage pathogenicity 14635101 15942939 16955466 33335961 30289396 33468175 0 No evidence available 2021-10-13 MONDO:0005835 MLPH 79083 2q37.3 chr2:238395053-238463965 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012220 MLYCD 23417 16q23.3 chr16:83932720-83960636 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009556 MMAA 166785 4q31.21 chr4:146540537-146581185 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009613 MMAB 326625 12q24.11 chr12:109991520-110011309 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-06-30 MONDO:0009614 MMACHC 25974 1p34.1 chr1:45965972-45979054 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010184 MMADHC 27249 2q23.2 chr2:150426151-150444289 30 Gene associated with autosomal recessive phenotype 0 No evidence available 22085900 2016-07-21 MONDO:0010185 MMUT 4594 6p12.3 chr6:49398073-49430966 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-25 MONDO:0009612 MNX1 3110 7q36.3 chr7:156797548-156803357 3 Sufficient evidence for dosage pathogenicity 18449898 10749657 0 No evidence available 2012-10-04 MONDO:0008305 MOCS2 4338 5q11.2 chr5:52391509-52405587 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009644 MOV10 4343 1p13.2 chr1:113216934-113243368 0 No evidence available 24463507 25363768 27824329 0 No evidence available 2019-03-12 MPDZ 8777 9p23 chr9:13105706-13279691 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014085 MPLKIP 136647 7p14.1 chr7:40165626-40174221 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0021013 MRE11 4361 11q21 chr11:94148736-94227010 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2023-12-19 MSH2 4436 2p21-p16.3 chr2:47630206-47710367 3 Sufficient evidence for dosage pathogenicity 10850409 12203789 9843200 34203177 30710526 0 No evidence available 2021-10-13 MONDO:0005835 MSH3 4437 5q14.1 chr5:79950471-80172634 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-05-08 MONDO:0044300 MSH6 2956 2p16.3 chr2:48010284-48034092 3 Sufficient evidence for dosage pathogenicity 9354786 11709755 14974087 20028993 20487569 25318681 0 No evidence available 2021-10-13 MONDO:0005835 MSL3 10943 Xp22.2 chrX:11776278-11793891 3 Sufficient evidence for dosage pathogenicity 30224647 33173220 0 No evidence available 2023-08-23 MONDO:0026730 MSRB3 253827 12q14.3 chr12:65672463-65860687 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2021-08-23 MONDO:0019497 MSX1 4487 4p16.2 chr4:4861392-4865663 3 Sufficient evidence for dosage pathogenicity 11369996 10742093 15264286 0 No evidence available 2021-01-12 MONDO:0007129 MSX2 4488 5q35.2 chr5:174151585-174157899 1 Little evidence for dosage pathogenicity 14571277 16319823 16642368 10767351 16222674 10742103 0 No evidence available 2023-06-28 MONDO:0008197 MTAP 4507 9p21.3 chr9:21802635-21867080 1 Little evidence for dosage pathogenicity 0 No evidence available 2022-10-12 MONDO:0007205 MTFMT 123263 15q22.31 chr15:65293850-65321977 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013987 MTHFR 4524 1p36.22 chr1:11845780-11866021 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009353 MTM1 4534 Xq28 chrX:149737071-149841616 3 Sufficient evidence for dosage pathogenicity 10790201 11793470 12522554 0 No evidence available 2021-01-11 MONDO:0010683 MTMR2 8898 11q21 chr11:95566044-95657271 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011066 MTO1 25821 6q13 chr6:74171460-74218959 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013865 MTR 4548 1q43 chr1:236958581-237067281 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009609 MTRR 4552 5p15.31 chr5:7869261-7901226 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009354 MTTP 4547 4q23 chr4:100485287-100545154 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008692 MUTYH 4595 1p34.1 chr1:45794914-45806112 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-11-11 MONDO:0012041 MYBPC3 4607 11p11.2 chr11:47352957-47374253 3 Sufficient evidence for dosage pathogenicity 22820391 23816408 32973354 19574547 7493025 0 No evidence available 2023-01-10 MONDO:0005045 MYCN 4613 2p24.3 chr2:16080672-16087126 3 Sufficient evidence for dosage pathogenicity 16906565 18671284 18470948 0 No evidence available 2017-07-12 MONDO:0008115 MYH10 4628 17p13.1 chr17:8377530-8534043 1 Little evidence for dosage pathogenicity 25003005 25284784 25363768 0 No evidence available 2019-01-23 MONDO:0100038 MYH11 4629 16p13.11 chr16:15796992-15950885 0 No evidence available 16444274 21937134 0 No evidence available 2024-09-25 MONDO:0019625 MYH7 4625 14q11.2 chr14:23881949-23904869 0 No evidence available 0 No evidence available 2015-11-15 MYH9 4627 22q12.3 chr22:36677326-36784012 1 Little evidence for dosage pathogenicity 37076359 31125547 31562665 24963352 26969326 0 No evidence available 2024-09-04 MONDO:0015912 MYL3 4634 3p21.31 chr3:46899362-46904934 0 No evidence available 0 No evidence available 2015-11-18 MONDO:0005045 MYO15A 51168 17p11.2 chr17:18012070-18083114 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010860 MYO1E 4643 15q22.2 chr15:59424633-59665070 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013589 MYO3A 53904 10p12.1 chr10:26223158-26501461 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-03-06 MONDO:0011774 MYO5A 4644 15q21.2 chr15:52599480-52821247 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008962 MYO5B 4645 18q21.1 chr18:47349159-47721517 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 MONDO:0009635 MYSM1 114803 1p32.1 chr1:59120415-59165734 30 Gene associated with autosomal recessive phenotype 37344829 30503522 32640305 38129711 32888943 33858043 0 No evidence available 2025-05-30 MONDO:0020856 MYT1L 23040 2p25.3 chr2:1792885-2335047 3 Sufficient evidence for dosage pathogenicity 27824329 23033978 25232846 0 No evidence available 2017-03-09 MONDO:0014678 NAA10 8260 Xq28 chrX:153194678-153200490 1 Little evidence for dosage pathogenicity 24431331 0 No evidence available 2022-08-09 MONDO:0100124 NAA15 80155 4q31.1 chr4:140222659-140312538 3 Sufficient evidence for dosage pathogenicity 28191889 29656860 28263302 0 No evidence available 2021-04-13 MONDO:0000508 NAALADL2 254827 3q26.31 chr3:174577124-175528336 0 No evidence available 15168106 22106001 0 No evidence available 2016-01-07 NAF1 92345 4q32.2 chr4:164047860-164088042 1 Little evidence for dosage pathogenicity 36416722 27510903 0 No evidence available 2024-08-20 MONDO:0000148 NAT8L 339983 4p16.3 chr4:2061054-2070816 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013549 NBAS 51594 2p24.3 chr2:15307040-15701458 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013889 NBEA 26960 13q13.3 chr13:35516407-36246873 3 Sufficient evidence for dosage pathogenicity 30269351 12746398 0 No evidence available 2019-06-26 MONDO:0100038 NBN 4683 8q21.3 chr8:90945559-90996895 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2024-04-10 MONDO:0009623 NCF1 653361 7q11.23 chr7:74188309-74203720 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-10-10 MONDO:0009309 NCF2 4688 1q25.3 chr1:183524697-183560049 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009310 NCF4 4689 22q12.3 chr22:37257048-37274057 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013507 NCKAP1 10787 2q32.1 chr2:183773843-183903185 3 Sufficient evidence for dosage pathogenicity 27632392 27824329 28940097 0 No evidence available 2017-12-27 MONDO:0100038 NDE1 54820 16p13.11 chr16:15737239-15820210 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-04-29 MONDO:0013527 NDN 4692 15q11.2 chr15:23930547-23932452 0 No evidence available 0 No evidence available 2012-04-26 NDP 4693 Xp11.3 chrX:43808022-43832636 3 Sufficient evidence for dosage pathogenicity 8790105 1301161 1307245 0 No evidence available 2012-06-14 MONDO:0010691 NDRG1 10397 8q24.22 chr8:134249418-134309495 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011085 NDUFA1 4694 Xq24 chrX:119005795-119010625 0 No evidence available 0 No evidence available 2012-07-25 NDUFA10 4705 2q37.3 chr2:240831859-240964759 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009723 NDUFAF1 51103 15q15.1 chr15:41679551-41694694 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0100224 NDUFAF2 91942 5q12.1 chr5:60241032-60448853 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009723 NDUFAF5 79133 20p12.1 chr20:13765674-13802226 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0100224 NDUFB3 4709 2q33.1 chr2:201936724-201950473 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0100224 NDUFS4 4724 5q11.2 chr5:52856469-52979168 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0100224 NDUFS6 4726 5p15.33 chr5:1801521-1816162 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0100224 NDUFS7 374291 19p13.3 chr19:1383906-1395583 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009723 NDUFS8 4728 11q13.2 chr11:67798148-67804111 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009723 NDUFV1 4723 11q13.2 chr11:67374407-67380025 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-03-22 MONDO:0100224 NDUFV2 4729 18p11.22 chr18:9102697-9134339 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0100224 NEBL 10529 10p12.31 chr10:21068902-21581979 0 No evidence available 0 No evidence available 2011-12-21 NEDD9 4739 6p24.2 chr6:11183531-11382581 1 Little evidence for dosage pathogenicity 25363768 0 No evidence available 2019-02-27 MONDO:0100038 NEFH 4744 22q12.2 chr22:29876207-29887379 0 No evidence available 27040688 39039281 35297556 0 No evidence available 2025-07-08 MONDO:0014836 NEFL 4747 8p21.2 chr8:24808468-24814126 0 No evidence available 20039262 19158810 0 No evidence available 2018-09-17 NEK1 4750 4q33 chr4:170313960-170533734 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-08-01 MONDO:0009894 NELFA 7469 4p16.3 chr4:1984450-2010701 0 No evidence available 0 No evidence available 2012-09-06 NEXMIF 340533 Xq13.3 chrX:73952691-74145287 3 Sufficient evidence for dosage pathogenicity 23615299 27358180 27568816 0 No evidence available 2019-06-26 MONDO:0010483 NF1 4763 17q11.2 chr17:29421945-29704695 3 Sufficient evidence for dosage pathogenicity 1757093 1302608 34427956 34750850 28230061 0 No evidence available 2023-02-12 MONDO:0018975 NF2 4771 22q12.2 chr22:29999545-30094589 3 Sufficient evidence for dosage pathogenicity 7913580 9817927 11159946 0 No evidence available 2020-09-08 MONDO:0007039 NFIA 4774 1p31.3 chr1:61542899-61928460 3 Sufficient evidence for dosage pathogenicity 22031302 24462883 27081522 0 No evidence available 2017-01-12 MONDO:0013396 NFIB 4781 9p23-p22.3 chr9:14081842-14532075 3 Sufficient evidence for dosage pathogenicity 30388402 36321570 33130023 32902921 0 No evidence available 2024-12-10 MONDO:0800439 NFIX 4784 19p13.13 chr19:13106289-13209610 3 Sufficient evidence for dosage pathogenicity 29897170 0 No evidence available 29184170 20613546 2022-04-12 MONDO:0013885 NGLY1 55768 3p24.2 chr3:25760435-25831530 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-02-18 MONDO:0800044 NHP2 55651 5q35.3 chr5:177576464-177580886 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-04 MONDO:0013519 NHS 4810 Xp22.2-p22.13 chrX:17393323-17754114 3 Sufficient evidence for dosage pathogenicity 14564667 15623749 16736028 22229851 28061824 0 No evidence available 2021-04-28 MONDO:0010545 NIPA1 123606 15q11.2 chr15:23043279-23086843 0 No evidence available 0 No evidence available 2012-04-04 NIPA2 81614 15q11.2 chr15:23004684-23034402 0 No evidence available 0 No evidence available 2012-04-04 NIPBL 25836 5p13.2 chr5:36876871-37066515 3 Sufficient evidence for dosage pathogenicity 15146185 15146186 15318302 1 Little evidence for dosage pathogenicity 23085304 19052029 2020-08-26 MONDO:0007387 NKX2-5 1482 5q35.1 chr5:172659112-172662209 3 Sufficient evidence for dosage pathogenicity 28690296 26679770 17891520 0 No evidence available 2020-07-22 MONDO:0800441 NKX3-2 579 4p15.33 chr4:13542454-13546132 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013228 NLGN1 22871 3q26.31 chr3:173113742-174012162 0 No evidence available 15551338 22106001 0 No evidence available 2016-03-25 NLGN3 54413 Xq13.1 chrX:70364691-70391051 0 No evidence available 0 No evidence available 2012-07-25 NLGN4X 57502 Xp22.32-p22.31 chrX:5808083-6146908 2 Some evidence for dosage pathogenicity 12669065 14963808 18231125 23352163 36368308 32005694 0 No evidence available 2025-03-26 MONDO:0100148 NNAT 4826 20q11.23 chr20:36149652-36152092 0 No evidence available 0 No evidence available 2012-04-28 NODAL 4838 10q22.1 chr10:72191692-72207707 1 Little evidence for dosage pathogenicity 19064609 0 No evidence available 2013-08-08 NOG 9241 17q22 chr17:54671060-54672972 3 Sufficient evidence for dosage pathogenicity 12089654 16532400 11846737 0 No evidence available 2021-01-12 MONDO:0008519 NONO 4841 Xq13.1 chrX:70503485-70521018 3 Sufficient evidence for dosage pathogenicity 36426740 0 No evidence available 2024-07-24 MONDO:0020119 NOP10 55505 15q14 chr15:34633920-34635337 0 No evidence available 0 No evidence available 2025-02-12 NOTCH1 4851 9q34.3 chr9:139388885-139440500 3 Sufficient evidence for dosage pathogenicity 16025100 37239988 32720365 25963545 0 No evidence available 2024-09-24 MONDO:0014459 NOTCH2 4853 1p12 chr1:120454176-120612276 0 No evidence available 0 No evidence available 2014-07-17 MONDO:0012439 NPC1 4864 18q11.2 chr18:21111406-21166470 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009757 NPHP1 4867 2q13 chr2:110880925-110962590 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-10-10 MONDO:0015369 NPHP4 261734 1p36.31 chr1:5922871-6052485 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011756 NPHS1 4868 19q13.12 chr19:36316274-36343406 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009732 NPRL3 8131 16p13.3 chr16:135385-188672 3 Sufficient evidence for dosage pathogenicity 26285051 34868250 31111464 30093711 36937533 31440721 0 No evidence available 2023-12-12 MONDO:0005384 NPTX2 4885 7q22.1 chr7:98246597-98259181 0 No evidence available 0 No evidence available 2012-10-10 NR0B1 190 Xp21.2 chrX:30322323-30327507 3 Sufficient evidence for dosage pathogenicity 16684822 15841486 11748852 0 No evidence available 2020-05-05 MONDO:0010264 NR2F1 7025 5q15 chr5:92918928-92930317 3 Sufficient evidence for dosage pathogenicity 32275123 23300014 32712214 24462372 34837429 0 No evidence available 2022-08-09 MONDO:0014320 NR2F2 7026 15q26.2 chr15:96869275-96883492 0 No evidence available 0 No evidence available 2012-07-10 NR3C2 4306 4q31.23 chr4:148999915-149365850 3 Sufficient evidence for dosage pathogenicity 9662404 16954160 27725360 0 No evidence available 2020-04-06 MONDO:0008329 NR4A2 4929 2q24.1 chr2:157180949-157189233 3 Sufficient evidence for dosage pathogenicity 28544326 29770430 31428396 32366965 31922365 30504930 0 No evidence available 2022-09-27 MONDO:0100038 NR5A1 2516 9q33.3 chr9:127243515-127269678 3 Sufficient evidence for dosage pathogenicity 15579739 15472171 21654157 22028768 17488792 19246354 0 No evidence available 2021-02-24 MONDO:0013066 NRAS 4893 1p13.2 chr1:115247090-115259392 0 No evidence available 38087044 0 No evidence available 2026-02-25 MONDO:0018997 NRG3 10718 10q23.1 chr10:83634950-84746935 0 No evidence available 0 No evidence available 21248748 2011-12-21 NRXN1 9378 2p16.3 chr2:50145641-51259270 3 Sufficient evidence for dosage pathogenicity 20162629 18057082 20468056 21424692 27869829 24768552 0 No evidence available 2021-06-08 MONDO:0100038 NSD1 64324 5q35.3 chr5:176560016-176727214 3 Sufficient evidence for dosage pathogenicity 11896389 17565729 23190751 0 No evidence available 2020-07-27 MONDO:0019349 NSD2 7468 4p16.3 chr4:1873120-1983919 3 Sufficient evidence for dosage pathogenicity 29760529 30345613 30244530 29892088 33941880 35550183 0 No evidence available 2023-10-25 MONDO:0000508 NSDHL 50814 Xq28 chrX:151999607-152038273 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2019-09-25 MONDO:0010621 NTAN1 123803 16p13.11 chr16:15131714-15149931 0 No evidence available 0 No evidence available 2018-09-17 NTHL1 4913 16p13.3 chr16:2089821-2097835 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-07-06 MONDO:0014630 NUDT13 25961 10q22.2 chr10:74870213-74891581 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 NUS1 116150 6q22.1 chr6:117996632-118031890 3 Sufficient evidence for dosage pathogenicity 29100083 34532305 33731878 31656175 0 No evidence available 2022-09-27 MONDO:0100038 NXF5 55998 Xq22.1 chrX:101087085-101112549 0 No evidence available 11566096 20338563 23871722 0 No evidence available 2025-06-19 NYX 60506 Xp11.4 chrX:41306596-41334905 3 Sufficient evidence for dosage pathogenicity 11062472 11062471 18617546 0 No evidence available 2020-01-22 MONDO:0010690 OAT 4942 10q26.13 chr10:126085872-126107492 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009796 OBSL1 23363 2q35 chr2:220415450-220436261 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013039 OCA2 4948 15q12-q13.1 chr15:28000021-28344461 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-28 MONDO:0008746 OCLN 100506658 5q13.2 chr5:68788374-68853931 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0020789 OCRL 4952 Xq26.1 chrX:128674236-128726533 3 Sufficient evidence for dosage pathogenicity 10923037 21031565 31674016 0 No evidence available 2021-01-12 MONDO:0010645 OFD1 8481 Xp22.2 chrX:13752867-13787476 3 Sufficient evidence for dosage pathogenicity 11179005 11950863 18546297 23033313 0 No evidence available 2021-04-13 MONDO:0010702 OPHN1 4983 Xq12 chrX:67262186-67653337 3 Sufficient evidence for dosage pathogenicity 16221952 20528889 24817631 24105372 30534410 32872024 0 No evidence available 18512229 22659343 28931914 2023-03-22 MONDO:0010337 OR5AU1 390445 14q11.2 chr14:21623024-21624222 0 No evidence available 0 No evidence available 2015-03-11 ORC4 5000 2q23.1 chr2:148687965-148779120 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-11-05 MONDO:0013428 ORC6 23594 16q11.2 chr16:46723571-46732306 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013430 OSBPL2 9885 20q13.33 chr20:60813577-60871239 1 Little evidence for dosage pathogenicity 25077649 25759012 30894143 38860500 35253614 0 No evidence available 2025-12-02 MONDO:0014594 OSBPL5 114879 11p15.4 chr11:3108337-3186540 0 No evidence available 0 No evidence available 2012-09-06 OSTM1 28962 6q21 chr6:108362613-108395945 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009817 OTC 5009 Xp11.4 chrX:38211857-38280699 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-06-28 MONDO:0010703 OTOA 146183 16p12.2 chr16:21675289-21772050 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011762 OTOF 9381 2p23.3 chr2:26680071-26781624 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010986 OTOGL 283310 12q21.31 chr12:80493317-80774660 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013984 OTUD7A 161725 15q13.3 chr15:31767601-32162876 0 No evidence available 0 No evidence available 2018-04-27 OTX2 5015 14q22.3 chr14:57266623-57277197 3 Sufficient evidence for dosage pathogenicity 24033328 19956411 18781617 0 No evidence available 2020-09-08 MONDO:0012413 OXCT1 5019 5p13.1 chr5:41730167-41870527 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009492 P3H1 64175 1p34.2 chr1:43212045-43232699 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-11 MONDO:0012581 PACS1 55690 11q13.1-q13.2 chr11:65837743-66012215 0 No evidence available 34373684 33726816 34068396 0 No evidence available 2021-12-14 PACS2 23241 14q32.33 chr14:105767111-105864484 0 No evidence available 22488736 36645641 37593999 0 No evidence available 2026-02-25 MONDO:0054845 PAFAH1B1 5048 17p13.3 chr17:2496948-2588909 3 Sufficient evidence for dosage pathogenicity 11754098 19667223 0 No evidence available 2020-10-13 MONDO:0015146 PAH 5053 12q23.2 chr12:103230667-103352219 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-08-28 MONDO:0009861 PAK2 5062 3q29 chr3:196466728-196559518 1 Little evidence for dosage pathogenicity 21841781 1 Little evidence for dosage pathogenicity 21841781 2011-12-27 PAK3 5063 Xq23 chrX:110187625-110470589 3 Sufficient evidence for dosage pathogenicity 9731525 18523455 27753653 25533962 35599849 16014725 0 No evidence available 2025-03-31 MONDO:0020119 PALB2 79728 16p12.2 chr16:23614486-23652631 3 Sufficient evidence for dosage pathogenicity 17200668 25099575 31841383 0 No evidence available 2025-02-24 MONDO:0700272 PALLD 23022 4q32.3 chr4:169418203-169849592 0 No evidence available Not yet evaluated Not yet evaluated 2025-06-16 PARK7 11315 1p36.23 chr1:8021771-8045565 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011658 PAX1 5075 20p11.22 chr20:21686302-21699119 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014254 PAX2 5076 10q24.31 chr10:102495153-102589701 3 Sufficient evidence for dosage pathogenicity 21285886 11241473 22213154 0 No evidence available 2020-02-26 MONDO:0007352 PAX3 5077 2q36.1 chr2:223064606-223163717 3 Sufficient evidence for dosage pathogenicity 1347148 8490648 8533800 0 No evidence available 2020-05-27 MONDO:0008670 PAX5 5079 9p13.2 chr9:36833266-37034265 1 Little evidence for dosage pathogenicity 35094443 22542183 0 No evidence available 2025-02-12 MONDO:0100038 PAX8 7849 2q14.1 chr2:113973574-114036498 1 Little evidence for dosage pathogenicity 9590296 22898500 33029631 15531527 26362610 28444304 0 No evidence available 2021-11-09 MONDO:0018612 PAX9 5083 14q13.3 chr14:37126773-37148567 3 Sufficient evidence for dosage pathogenicity 28910570 11781684 24028587 0 No evidence available 2020-07-08 MONDO:0011477 PBX1 5087 1q23.3 chr1:164528421-164855284 3 Sufficient evidence for dosage pathogenicity 29036646 28566479 28270404 0 No evidence available 2019-09-05 PC 5091 11q13.2 chr11:66615891-66725854 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009949 PCARE 388939 2p23.2 chr2:29284561-29297389 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-09-25 MONDO:0013263 PCCA 5095 13q32.3 chr13:100741347-101182689 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011628 PCDH15 65217 10q21.1 chr10:55562531-57387702 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011186 PCDH19 57526 Xq22.1 chrX:99546642-99665271 3 Sufficient evidence for dosage pathogenicity 18469813 19214208 23712037 21480887 23334464 36408521 0 No evidence available 2023-02-14 PCDH9 5101 13q21.32 chr13:66876966-67804468 0 No evidence available 0 No evidence available 2012-06-07 PCDHGA8 9708 5q31.3 chr5:140772200-140892542 40 Dosage sensitivity unlikely 32487729 25807282 28406212 32461654 0 No evidence available 2021-02-02 PCSK9 255738 1p32.3 chr1:55505221-55530525 40 Dosage sensitivity unlikely 19191301 15654334 0 No evidence available 2015-12-17 MONDO:0011369 PCYT1A 5130 3q29 chr3:195961239-196014597 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012160 PDE4D 5144 5q11.2-q12.1 chr5:58264865-59792113 0 No evidence available 0 No evidence available 2018-02-02 PDE6C 5146 10q23.33 chr10:95372294-95425767 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013129 PDGFRA 5156 4q12 chr4:55095460-55164412 0 No evidence available 38350919 29205322 33084842 0 No evidence available 28398664 26884814 2025-02-12 PDHA1 5160 Xp22.12 chrX:19362045-19379836 3 Sufficient evidence for dosage pathogenicity 21914562 33504798 18709504 15384102 20002125 0 No evidence available 2022-09-27 MONDO:0019169 PDHX 8050 11p13 chr11:34937677-35017675 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009503 PDP1 54704 8q22.1 chr8:94929151-94938296 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012120 PDSS2 57107 6q21 chr6:107473766-107780768 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013838 PDX1 3651 13q12.2 chr13:28494137-28500450 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0024547 PEG10 23089 7q21.3 chr7:94285637-94299007 0 No evidence available 0 No evidence available 2012-08-22 PEG3 5178 19q13.43 chr19:57321450-57352094 0 No evidence available 0 No evidence available 2012-05-17 PEPD 5184 19q13.11 chr19:33877856-34012697 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008221 PEX1 5189 7q21.2 chr7:92116339-92157834 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0019234 PEX11B 8799 1q21.1 chr1:145516372-145523732 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013967 PEX14 5195 1p36.22 chr1:10535007-10690815 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013952 PEX16 9409 11p11.2 chr11:45931214-45939428 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0019234 PEX26 55670 22q11.21 chr22:18560756-18588162 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0019234 PEX3 8504 6q24.2 chr6:143771942-143811753 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0054549 PEX7 5191 6q23.3 chr6:137143730-137235072 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013945 PGAP3 93210 17q12 chr17:37827375-37844310 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014318 PGK1 5230 Xq21.1 chrX:77359745-77384792 1 Little evidence for dosage pathogenicity 10720297 16567715 26883264 31658606 0 No evidence available 2024-09-10 MONDO:0010392 PGM1 5236 1p31.3 chr1:64059082-64125916 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013968 PGM3 5238 6q14.1 chr6:83860447-83903619 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014353 PHC1 1911 12p13.31 chr12:9067105-9094063 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014173 PHEX 5251 Xp22.11 chrX:22050443-22269427 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-06-28 MONDO:0010619 PHF12 57649 17q11.2 chr17:27232268-27278536 3 Sufficient evidence for dosage pathogenicity 30559488 33004838 28263302 35982160 33057194 0 No evidence available 2025-03-31 MONDO:0100038 PHF2 5253 9q22.31 chr9:96338866-96441869 1 Little evidence for dosage pathogenicity 25363768 27824329 0 No evidence available 2019-02-27 PHF21A 51317 11p11.2 chr11:45950870-46143005 3 Sufficient evidence for dosage pathogenicity 30487643 36555772 36158052 31981491 25363760 35982159 0 No evidence available 2023-09-21 MONDO:0100038 PHF3 23469 6q12 chr6:64345707-64435904 1 Little evidence for dosage pathogenicity 25363768 28263302 0 No evidence available 2019-02-27 MONDO:0005258 PHF6 84295 Xq26.2 chrX:133507342-133562820 3 Sufficient evidence for dosage pathogenicity 12415272 15994862 22190899 24092917 23906836 24380767 0 No evidence available 2021-02-24 MONDO:0010537 PHF8 23133 Xp11.22 chrX:53963113-54071569 3 Sufficient evidence for dosage pathogenicity 16199551 17594395 28135719 0 No evidence available 2020-08-26 MONDO:0010286 PHIP 55023 6q14.1 chr6:79644136-79787971 3 Sufficient evidence for dosage pathogenicity 23033978 27900362 34773373 29209020 33004838 0 No evidence available 2022-04-13 MONDO:0035133 PHKB 5257 16q12.1 chr16:47495210-47735434 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009868 PHKG2 5261 16p11.2 chr16:30759746-30772497 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013091 PHLDA2 7262 11p15.4 chr11:2949503-2950650 0 No evidence available 0 No evidence available 2012-03-22 PHOX2B 8929 4p13 chr4:41746099-41750742 3 Sufficient evidence for dosage pathogenicity 33958749 21830319 28371199 29098737 0 No evidence available 2024-07-10 MONDO:0020493 PHYH 5264 10p13 chr10:13319799-13342064 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009958 PIGA 5277 Xp22.2 chrX:15337573-15353676 1 Little evidence for dosage pathogenicity 0 No evidence available 2025-04-10 MONDO:0005047 PIGN 23556 18q21.33 chr18:59708397-59854289 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013563 PIGO 84720 9p13.3 chr9:35088685-35096588 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013882 PIGW 284098 17q12 chr17:34890814-34895152 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014457 PIK3CA 5290 3q26.32 chr3:178866145-178957881 0 No evidence available 0 No evidence available 2025-03-13 PIK3R2 5296 19p13.11 chr19:18263973-18281342 0 No evidence available 0 No evidence available 2015-06-25 PINK1 65018 1p36.12 chr1:20959951-20978004 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011613 PIP5K1C 23396 19p13.3 chr19:3630181-3700466 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012656 PITPNA 5306 17p13.3 chr17:1421012-1466086 0 No evidence available 0 No evidence available 2012-06-07 PITX2 5308 4q25 chr4:111538579-111563279 3 Sufficient evidence for dosage pathogenicity 14630904 17167399 20881294 29939776 0 No evidence available 2022-10-24 MONDO:0019187 PITX3 5309 10q24.32 chr10:103989946-104001269 0 No evidence available 0 No evidence available 2013-11-06 PKD1 5310 16p13.3 chr16:2138709-2185899 3 Sufficient evidence for dosage pathogenicity 25491204 24694054 29529603 0 No evidence available 2020-06-10 MONDO:0008263 PKD2 5311 4q22.1 chr4:88928787-88998929 3 Sufficient evidence for dosage pathogenicity 8650545 9402976 0 No evidence available 2012-07-06 MONDO:0013131 PKP2 5318 12p11.21 chr12:32943689-33049711 3 Sufficient evidence for dosage pathogenicity 15489853 24704780 29038103 34120153 34120153 35653365 0 No evidence available 2023-05-10 MONDO:0016587 PLA2G6 8398 22q13.1 chr22:38507502-38577837 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0018307 PLAGL1 5325 6q24.2 chr6:144261437-144385736 0 No evidence available 0 No evidence available 2012-08-26 PLCB1 23236 20p12.3 chr20:8112913-8865547 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013389 PLEKHG5 57449 1p36.31 chr1:6526152-6580152 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014154 PLN 5350 6q22.31 chr6:118869459-118882879 1 Little evidence for dosage pathogenicity 28771489 12639993 29511324 0 No evidence available 2025-08-29 MONDO:0000591 PLOD1 5351 1p36.22 chr1:11994774-12035594 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0016002 PLOD2 5352 3q24 chr3:145787227-145878971 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012217 PLOD3 8985 7q22.1 chr7:100849265-100860862 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012892 PLP1 5354 Xq22.2 chrX:103031434-103047548 3 Sufficient evidence for dosage pathogenicity 21679407 1720927 16416265 12297985 11093273 11071483 3 Sufficient evidence for dosage pathogenicity 15689360 10417279 19376225 9634530 2021-04-12 MONDO:0010714 MONDO:0010714 PMM2 5373 16p13.2 chr16:8891696-8943182 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008907 PMP22 5376 17p12 chr17:15133096-15168643 3 Sufficient evidence for dosage pathogenicity 8012388 9040737 9712007 0 No evidence available 2012-07-12 MONDO:0008087 MONDO:0007309 PNP 4860 14q11.2 chr14:20937565-20945248 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013171 POGZ 23126 1q21.3 chr1:151375200-151431970 3 Sufficient evidence for dosage pathogenicity 27148570 26942287 26739615 0 No evidence available 2017-12-27 MONDO:0014606 POLD1 5424 19q13.33 chr19:50887580-50921275 1 Little evidence for dosage pathogenicity 0 No evidence available 2020-06-05 POLE 5426 12q24.33 chr12:133200348-133263928 1 Little evidence for dosage pathogenicity 23585368 29020732 0 No evidence available 2019-12-16 POLH 5429 6p21.1 chr6:43543922-43588260 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2024-11-13 MONDO:0010214 POLL 27343 10q24.32 chr10:103338639-103348027 0 No evidence available 0 No evidence available 2011-12-21 MONDO:0009525 POLR1D 51082 13q12.2 chr13:28194880-28241548 3 Sufficient evidence for dosage pathogenicity 21131976 25790162 0 No evidence available 2021-06-23 MONDO:0013385 POMP 51371 13q12.3 chr13:29233267-29253096 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-08-27 MONDO:0011169 POMT1 10585 9q34.13 chr9:134378305-134399186 30 Gene associated with autosomal recessive phenotype 12369018 27193224 28157257 17878207 0 No evidence available 2025-07-25 MONDO:0700070 POMT2 29954 14q24.3 chr14:77741299-77787226 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0018276 POR 5447 7q11.23 chr7:75544473-75616173 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008726 PORCN 64840 Xp11.23 chrX:48367380-48379202 3 Sufficient evidence for dosage pathogenicity 17546030 17546031 20854095 0 No evidence available 2012-08-23 MONDO:0010592 POT1 25913 7q31.33 chr7:124462440-124569879 2 Some evidence for dosage pathogenicity 24686849 37140166 24686846 0 No evidence available 2025-05-30 MONDO:0014368 POU3F3 5455 2q12.1 chr2:105470573-105475032 0 No evidence available 37010288 24550763 Not yet evaluated Not yet evaluated 2025-01-14 MONDO:0100038 POU3F4 5456 Xq21.1 chrX:82763298-82767135 3 Sufficient evidence for dosage pathogenicity 39272213 31063410 37371790 24608376 30176854 0 No evidence available 2025-05-28 MONDO:0019497 POU4F3 5459 5q32 chr5:145718402-145721291 3 Sufficient evidence for dosage pathogenicity 9506947 27535032 27999687 24556497 32684921 28545070 0 No evidence available 2023-11-29 MONDO:0011226 PPIB 5479 15q22.31 chr15:64448016-64455221 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009805 PPM1D 8493 17q23.2 chr17:58677554-58743641 0 No evidence available 28343630 35016835 0 No evidence available 2023-03-28 MONDO:0000508 PPP1CB 5500 2p23.2 chr2:28974470-29025806 0 No evidence available 0 No evidence available 2025-05-28 PPP1R9A 55607 7q21.3 chr7:94536906-94925727 0 No evidence available 0 No evidence available 2012-04-04 PPP2R1A 5518 19q13.41 chr19:52693305-52732771 0 No evidence available 0 No evidence available 2023-12-06 PPP2R5D 5528 6p21.1 chr6:42952308-42980080 1 Little evidence for dosage pathogenicity 32595695 25363768 0 No evidence available 2021-05-26 MONDO:0014602 PPT1 5538 1p34.2 chr1:40537133-40562924 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009744 PQBP1 10084 Xp11.23 chrX:48755213-48760420 3 Sufficient evidence for dosage pathogenicity 20950397 17033686 21315190 0 No evidence available 2020-04-09 MONDO:0010653 PRCD 768206 17q25.1 chr17:74523668-74541458 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012523 PRDM6 93166 5q23.2 chr5:122424936-122529960 0 No evidence available 0 No evidence available 2017-12-14 PREPL 9581 2p21 chr2:44544746-44589001 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-03-21 MONDO:0044299 PRF1 5551 10q22.1 chr10:72357104-72362497 30 Gene associated with autosomal recessive phenotype 10583959 11179007 32542392 Not yet evaluated Not yet evaluated 2025-07-09 PRG4 10216 1q31.1 chr1:186265405-186283699 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008828 PRKAG2 51422 7q36.1 chr7:151253213-151574200 0 No evidence available 0 No evidence available 2015-11-05 MONDO:0800484 PRKAR1A 5573 17q24.2 chr17:66409764-66547457 3 Sufficient evidence for dosage pathogenicity 24170103 26354069 0 No evidence available 2024-10-09 MONDO:0008057 PRKCSH 5589 19p13.2 chr19:11546456-11561783 3 Sufficient evidence for dosage pathogenicity 38101549 12529853 0 No evidence available 2025-07-08 MONDO:0008265 PRKD1 5587 14q12 chr14:30045685-30397053 0 No evidence available 36478645 34328347 28991257 Not yet evaluated Not yet evaluated 2025-04-08 MONDO:0005453 PRKN 5071 6q26 chr6:161768449-163148798 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-05-15 MONDO:0010820 PRODH 5625 22q11.21 chr22:18900294-18924066 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2022-11-08 MONDO:0009400 PROP1 5626 5q35.3 chr5:177419236-177423243 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009878 PRR12 57479 19q13.33 chr19:50094439-50129696 3 Sufficient evidence for dosage pathogenicity 33824499 33314030 29556724 26163108 0 No evidence available 2023-11-29 MONDO:0859193 PRRT2 112476 16p11.2 chr16:29823514-29827202 3 Sufficient evidence for dosage pathogenicity 22832103 22744660 22120146 32237035 33791013 0 No evidence available 2025-10-28 MONDO:0100024 PSAT1 29968 9q21.2 chr9:80912041-80945009 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0018162 PSD3 23362 8p22 chr8:18384813-18871213 0 No evidence available 0 No evidence available 2016-12-07 PSORS1C2 170680 6p21.33 chr6:31105311-31106843 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 PSPH 5723 7p11.2 chr7:56078757-56119137 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013531 PTCH1 5727 9q22.32 chr9:98205262-98279253 3 Sufficient evidence for dosage pathogenicity 30411536 21368767 29575684 0 No evidence available 18830227 2020-07-01 MONDO:0007187 PTCHD1 139411 Xp22.11 chrX:23352966-23422491 3 Sufficient evidence for dosage pathogenicity 25131214 20844286 25533962 0 No evidence available 2018-02-28 MONDO:0010440 PTEN 5728 10q23.31 chr10:89623382-89731687 3 Sufficient evidence for dosage pathogenicity 21194675 32003824 0 No evidence available 2020-06-24 MONDO:0017623 PTH1R 5745 3p21.31 chr3:46919211-46945289 3 Sufficient evidence for dosage pathogenicity 19061984 24058597 23771181 24300310 29376733 31730001 0 No evidence available 2024-06-28 MONDO:0007434 PTHLH 5744 12p11.22 chr12:28111017-28125666 3 Sufficient evidence for dosage pathogenicity 20170896 30458061 29947179 26640227 26763883 28211986 1 Little evidence for dosage pathogenicity 26733284 21082660 25007883 30803154 33981811 2023-01-25 MONDO:0013244 MONDO:0023599 PTPN11 5781 12q24.13 chr12:112856751-112947722 3 Sufficient evidence for dosage pathogenicity 20577567 21533187 26984661 0 No evidence available 18348260 19760651 2020-09-08 MONDO:0007979 MONDO:0008104 PTPRQ 374462 12q21.31 chr12:80838015-81074052 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013249 PTS 5805 11q23.1 chr11:112097151-112104696 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009863 PUF60 22827 8q24.3 chr8:144898514-144911485 3 Sufficient evidence for dosage pathogenicity 24140112 27804958 28327570 28074499 32851780 36367278 0 No evidence available 2024-01-09 MONDO:0000508 PURA 5813 5q31.3 chr5:139493694-139505204 3 Sufficient evidence for dosage pathogenicity 25342064 25439098 27148565 29097605 34116881 33633953 0 No evidence available 2025-03-26 MONDO:0100038 PXDN 7837 2p25.3 chr2:1635659-1748287 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010015 PYCR1 5831 17q25.3 chr17:79890267-79895176 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013051 QDPR 5860 4p15.32 chr4:17488018-17513713 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009862 QRICH1 54870 3p21.31 chr3:49067140-49131806 3 Sufficient evidence for dosage pathogenicity 28692176 30281152 33009816 33738978 37331002 34859529 0 No evidence available 2023-11-15 MONDO:0000508 RAB27A 5873 15q21.3 chr15:55495164-55582011 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011872 RAB28 9364 4p15.33 chr4:13369348-13485964 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014153 RAB39B 116442 Xq28 chrX:154487520-154493776 3 Sufficient evidence for dosage pathogenicity 20159109 21076407 23871722 0 No evidence available 2020-05-29 MONDO:0010289 RAB3GAP1 22930 2q21.3 chr2:135809862-135928280 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010822 RAB3GAP2 25782 1q41 chr1:220321635-220445795 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0015159 RABL2A 11159 2q14.1 chr2:114384843-114400969 40 Dosage sensitivity unlikely 32487729 25807282 32461654 0 No evidence available 2021-02-02 RAD21 5885 8q24.11 chr8:117858173-117887015 3 Sufficient evidence for dosage pathogenicity 32193685 30716475 30919572 33277604 27882533 32696056 0 No evidence available 2022-03-08 MONDO:0016033 RAD50 10111 5q31.1 chr5:131892669-131982041 1 Little evidence for dosage pathogenicity 38924040 37790698 0 No evidence available 2025-03-12 RAD51B 5890 14q24.1 chr14:68286496-69149813 1 Little evidence for dosage pathogenicity 34635660 26556299 26261251 35737913 0 No evidence available 2025-06-19 MONDO:0013669 RAD51C 5889 17q22 chr17:56769934-56812972 3 Sufficient evidence for dosage pathogenicity 21990120 24800917 20400964 0 No evidence available 2020-07-08 MONDO:0013253 RAD51D 5892 17q12 chr17:33419240-33446879 3 Sufficient evidence for dosage pathogenicity 32359370 34923718 0 No evidence available 2024-01-09 MONDO:0016248 RAF1 5894 3p25.2 chr3:12625100-12705616 0 No evidence available 0 No evidence available 2018-09-13 RAG1 5896 11p12 chr11:36531903-36601312 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0000572 RAG2 5897 11p12 chr11:36613493-36619786 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011338 RAI1 10743 17p11.2 chr17:17584772-17714767 3 Sufficient evidence for dosage pathogenicity 12652298 15565467 15788730 0 No evidence available 2020-10-13 MONDO:0008434 RALGAPB 57148 20q11.23 chr20:37101486-37207501 1 Little evidence for dosage pathogenicity 30564305 23934111 25363760 0 No evidence available 2019-02-27 MONDO:0100038 RARS2 57038 6q15 chr6:88223656-88299705 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 MONDO:0012683 RASA1 5921 5q14.3 chr5:86563700-86687733 3 Sufficient evidence for dosage pathogenicity 24038909 29891884 0 No evidence available 2020-04-22 MONDO:0020783 RAX 30062 18q21.32 chr18:56934270-56940686 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012604 RB1 5925 13q14.2 chr13:48877887-49056026 3 Sufficient evidence for dosage pathogenicity 2601691 8651278 28575107 27126562 0 No evidence available 2021-03-09 MONDO:0008380 RB1CC1 9821 8q11.23 chr8:53535018-53626995 1 Little evidence for dosage pathogenicity 28263302 21822266 0 No evidence available 26151896 21841781 2018-07-25 RBBP8 5932 18q11.2 chr18:20513291-20606449 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011715 RBP3 5949 10q11.22 chr10:48381481-48390999 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014093 RCAN1 1827 21q22.12 chr21:35888740-35987412 0 No evidence available 0 No evidence available 2012-04-26 RDX 5962 11q22.3 chr11:110045647-110167339 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012602 RECQL 5965 12p12.1 chr12:21621844-21654569 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2024-09-11 REEP6 92840 19p13.3 chr19:1491180-1497926 30 Gene associated with autosomal recessive phenotype 27889058 29120066 33917198 0 No evidence available 2025-08-04 MONDO:0019118 RELN 5649 7q22.1 chr7:103112236-103630105 0 No evidence available 0 No evidence available 2023-12-14 MONDO:0100038 RET 5979 10q11.21 chr10:43572517-43625799 3 Sufficient evidence for dosage pathogenicity 11694544 11953745 30970187 0 No evidence available 2020-08-26 MONDO:0007723 RETREG1 54463 5p15.1 chr5:16473162-16617106 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013142 RFX6 222546 6q22.1 chr6:117198405-117253324 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-09-18 MONDO:0017400 RHBDF2 79651 17q25.1 chr17:74466975-74497509 0 No evidence available 0 No evidence available 2025-09-10 RIMS1 22999 6q13 chr6:72596253-73112847 1 Little evidence for dosage pathogenicity 22542183 25284784 27824329 0 No evidence available 2018-01-24 MONDO:0005258 RIN2 54453 20p11.23 chr20:19738902-19983100 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013115 RINT1 60561 7q22.3 chr7:105172648-105208124 0 No evidence available 33099839 0 No evidence available 2024-07-10 RIPK4 54101 21q22.3 chr21:43159533-43187212 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009901 RIT1 6016 1q22 chr1:155867599-155881140 0 No evidence available 32746448 38278869 36900003 0 No evidence available 2025-09-24 RMND1 55005 6q25.1 chr6:151725897-151773261 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013969 RMRP 6023 9p13.3 chr9:35657748-35658015 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009595 RNASEH2A 10535 19p13.13 chr19:12917398-12924454 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012472 RNF135 84282 17q11.2 chr17:29298057-29326929 0 No evidence available 17632510 19291764 30665703 0 No evidence available 2021-09-22 RNF168 165918 3q29 chr3:196195654-196230639 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012764 RNF32 140545 7q36.3 chr7:156433468-156469824 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 RNF43 54894 17q22 chr17:56429861-56494895 2 Some evidence for dosage pathogenicity 24512911 27081527 39546056 27329244 34761457 35128723 0 No evidence available 2026-01-14 MONDO:0014919 ROBO1 6091 3p12.3 chr3:78646389-79817148 0 No evidence available 16254601 0 No evidence available 2018-09-25 ROBO3 64221 11q24.2 chr11:124735328-124751367 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0020790 ROGDI 79641 16p13.3 chr16:4846969-4852634 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-02-12 MONDO:0009185 ROR2 4920 9q22.31 chr9:94484883-94712510 0 No evidence available 0 No evidence available 2013-03-27 RORB 6096 9q21.13 chr9:77112251-77308093 3 Sufficient evidence for dosage pathogenicity 27352968 32162308 38165337 0 No evidence available 2025-01-14 MONDO:0100038 RP2 6102 Xp11.3 chrX:46696478-46741793 3 Sufficient evidence for dosage pathogenicity 16969763 9697692 10090907 0 No evidence available 2012-10-04 MONDO:0010723 RPE65 6121 1p31.3 chr1:68894505-68915637 30 Gene associated with autosomal recessive phenotype 9326927 9326941 9501220 0 No evidence available 2025-02-27 MONDO:0100368 RPGRIP1 57096 14q11.2 chr14:21748242-21819460 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013446 RPH3A 22895 12q24.13 chr12:113013040-113336686 1 Little evidence for dosage pathogenicity 28263302 22083728 0 No evidence available 2018-07-25 RPL10 6134 Xq28 chrX:153626406-153630680 0 No evidence available 0 No evidence available 2018-10-24 MONDO:0100038 RPL15 6138 3p24.2 chr3:23958036-23966122 1 Little evidence for dosage pathogenicity 23812780 0 No evidence available 2014-07-16 RPS10 6204 6p21.31 chr6:34385231-34393846 2 Some evidence for dosage pathogenicity 20116044 37376976 40960598 0 No evidence available 2025-12-11 MONDO:0013216 RPS17 6218 15q25.2 chr15:83205501-83209208 3 Sufficient evidence for dosage pathogenicity 23812780 20378560 17647292 0 No evidence available 2015-12-10 MONDO:0012924 RPS19 6223 19q13.2 chr19:42364325-42376993 3 Sufficient evidence for dosage pathogenicity 10590074 15384984 15059149 20960466 0 No evidence available 2021-03-24 MONDO:0007110 RPS20 6224 8q12.1 chr8:56979813-56987065 0 No evidence available 0 No evidence available 2024-12-12 RPS24 6229 10q22.3 chr10:79793621-79816564 3 Sufficient evidence for dosage pathogenicity 23812780 17186470 29044489 25946618 19689926 26136524 0 No evidence available 2025-04-09 MONDO:0012529 RPS26 6231 12q13.2 chr12:56435702-56438481 3 Sufficient evidence for dosage pathogenicity 23812780 0 No evidence available 2019-10-23 MONDO:0013217 RPS6KA3 6197 Xp22.12 chrX:20168029-20285027 3 Sufficient evidence for dosage pathogenicity 8955270 9837815 16879200 26297997 31400053 0 No evidence available 2022-06-14 MONDO:0010561 RPS7 6201 2p25.3 chr2:3622850-3628510 2 Some evidence for dosage pathogenicity 19061985 27882484 30503522 0 No evidence available 2025-10-16 RS1 6247 Xp22.13 chrX:18657808-18690228 3 Sufficient evidence for dosage pathogenicity 24138048 32300273 0 No evidence available 2021-08-02 MONDO:0010725 RSPH1 89765 21q22.3 chr21:43892596-43916334 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014202 RSPH4A 345895 6q22.1 chr6:116937642-116954148 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012978 RSPO4 343637 20p13 chr20:939095-982954 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008798 RTTN 25914 18q22.2 chr18:67670267-67872923 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013907 RUNX1 861 21q22.12 chr21:36160098-36421599 3 Sufficient evidence for dosage pathogenicity 31723833 18478040 19357396 33616470 0 No evidence available 2023-06-14 MONDO:0100083 RXFP2 122042 13q13.1 chr13:32313663-32377526 0 No evidence available 0 No evidence available 2012-07-06 RYR1 6261 19q13.2 chr19:38924331-39078204 0 No evidence available 0 No evidence available 2015-11-12 RYR2 6262 1q43 chr1:237205484-237997288 0 No evidence available 0 No evidence available 2015-11-05 MONDO:0017990 SACS 26278 13q12.12 chr13:23902969-24007841 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010041 SALL1 6299 16q12.1 chr16:51169893-51185181 1 Little evidence for dosage pathogenicity 22308078 16429401 0 No evidence available 2021-01-27 MONDO:0054581 SALL4 57167 20q13.2 chr20:50398870-50419060 3 Sufficient evidence for dosage pathogenicity 16086360 30552424 17256792 0 No evidence available 2021-01-11 MONDO:0011812 SAMD9 54809 7q21.2 chr7:92728831-92747292 0 No evidence available Not yet evaluated Not yet evaluated 2024-05-14 MONDO:0012502 SAMHD1 25939 20q11.23 chr20:35518176-35580111 30 Gene associated with autosomal recessive phenotype 19525956 20358604 20653736 0 No evidence available 2025-03-28 MONDO:0700260 SATB2 23314 2q33.1 chr2:200134223-200335989 3 Sufficient evidence for dosage pathogenicity 28139846 28151491 0 No evidence available 2020-07-15 MONDO:0100147 SBDS 51119 7q11.21 chr7:66452667-66460573 30 Gene associated with autosomal recessive phenotype 15284109 22491737 35969835 32293785 0 No evidence available 2024-05-08 MONDO:0009833 SBF2 81846 11p15.4 chr11:9800215-10315766 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011475 SCARB2 950 4q21.1 chr4:77079890-77134977 0 No evidence available 0 No evidence available 2012-07-06 SCARF2 91179 22q11.21 chr22:20778874-20792112 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010959 SCN1A 6323 2q24.3 chr2:166841151-167005671 3 Sufficient evidence for dosage pathogenicity 11359211 11940708 18930999 0 No evidence available 2012-07-06 MONDO:0100079 SCN1B 6324 19q13.11 chr19:35521374-35531353 0 No evidence available 0 No evidence available 2019-09-04 SCN2A 6326 2q24.3 chr2:166095924-166248814 3 Sufficient evidence for dosage pathogenicity 22495306 15028761 28379373, 29655203 0 No evidence available 2020-04-22 MONDO:0100038 SCN5A 6331 3p22.2 chr3:38589553-38691178 3 Sufficient evidence for dosage pathogenicity 30193851 29574140 21288276 17399644 33131149 20129283 0 No evidence available 2021-06-08 MONDO:0015263 SDCCAG8 10806 1q43-q44 chr1:243419343-243663393 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014444 SDHAF1 644096 19q13.12 chr19:36486090-36487214 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0100294 SDHAF2 54949 11q12.2 chr11:61197596-61214205 3 Sufficient evidence for dosage pathogenicity 22241717 26096992 31687641 0 No evidence available 2022-05-11 MONDO:0017366 SDHB 6390 1p36.13 chr1:17345217-17380527 3 Sufficient evidence for dosage pathogenicity 16258955 19389109 17652212 0 No evidence available 2020-07-22 MONDO:0017366 SDHC 6391 1q23.3 chr1:161284171-161345130 3 Sufficient evidence for dosage pathogenicity 15342702 17667967 29386252 19454582 0 No evidence available 2021-10-13 MONDO:0017366 SDHD 6392 11q23.1 chr11:111957597-111966518 3 Sufficient evidence for dosage pathogenicity 10657297 12111639 11343322 15531530 12000816 18211978 0 No evidence available 2021-08-11 MONDO:0017366 SDR42E1 93517 16q23.3 chr16:82022460-82045075 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 SEC14L4 284904 22q12.2 chr22:30884889-30901682 40 Dosage sensitivity unlikely 32487729 22344438 32461654 0 No evidence available 2021-02-02 SEC23B 10483 20p11.23 chr20:18488192-18542059 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009134 SEM1 7979 7q21.3 chr7:96110938-96339158 0 No evidence available 0 No evidence available 2012-05-14 MONDO:0009080 SEMA3A 10371 7q21.11 chr7:83585093-83824105 1 Little evidence for dosage pathogenicity 22416012 0 No evidence available 2017-08-07 SEPSECS 51091 4p15.2 chr4:25121636-25162071 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013438 SERAC1 84947 6q25.3 chr6:158530551-158589294 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013875 SERPINA1 5265 14q32.13 chr14:94843084-94856972 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-05-09 MONDO:0013282 SERPINB6 5269 6p25.2 chr6:2948393-2972027 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013269 SERPINB7 8710 18q21.33 chr18:61420291-61472604 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-11-13 MONDO:0014272 SERPIND1 3053 22q11.21 chr22:21128401-21142008 0 No evidence available 8562924 33258288 0 No evidence available 2025-11-18 MONDO:0012876 SERPINE1 5054 7q22.1 chr7:100770385-100782528 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013227 SERPINF1 5176 17p13.3 chr17:1665354-1680859 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013515 SET 6418 9q34.11 chr9:131445703-131458675 3 Sufficient evidence for dosage pathogenicity 29688601 33619735 37737486 34008892 35599849 33287870 0 No evidence available 2025-01-22 MONDO:0001071 SETBP1 26040 18q12.3 chr18:42260038-42648475 3 Sufficient evidence for dosage pathogenicity 25217958 25356899 0 No evidence available 2018-05-23 MONDO:0014482 SETD1A 9739 16p11.2 chr16:30969075-30995985 3 Sufficient evidence for dosage pathogenicity 24853937 26974950 0 No evidence available 2018-02-28 MONDO:0005090 SETD1B 23067 12q24.31 chr12:122241915-122270562 3 Sufficient evidence for dosage pathogenicity 34345025 32546566 31110234 31685013 38313655 38108116 0 No evidence available 2024-08-28 MONDO:0100038 SETD2 29072 3p21.31 chr3:47057926-47205603 3 Sufficient evidence for dosage pathogenicity 24852293 26084711 27317772 29681085 31643139 24901346 0 No evidence available 2022-03-08 MONDO:0100038 SETD5 55209 3p25.3 chr3:9439299-9519838 3 Sufficient evidence for dosage pathogenicity 25138099 24680889 0 No evidence available 2014-11-06 MONDO:0014336 SF3B4 10262 1q21.2 chr1:149895209-149899695 3 Sufficient evidence for dosage pathogenicity 22541558 23568615 24003905 0 No evidence available 2014-07-17 MONDO:0007943 SGCE 8910 7q21.3 chr7:94214292-94285445 3 Sufficient evidence for dosage pathogenicity 16240355 11528394 12402271 20800530 18205193 15728306 0 No evidence available 2021-11-11 MONDO:0008044 SGCG 6445 13q12.12 chr13:23734647-23899301 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009677 SGSH 6448 17q25.3 chr17:78183075-78194132 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-02-12 MONDO:0009655 SH2B1 25970 16p11.2 chr16:28857927-28885526 1 Little evidence for dosage pathogenicity 23160192 24971614 17235396 31439647 26031769 0 No evidence available 2021-07-13 SH2D1A 4068 Xq25 chrX:123480413-123507010 3 Sufficient evidence for dosage pathogenicity 11049992 11159547 31144249 0 No evidence available 2021-01-27 MONDO:0024551 SH3TC2 79628 5q32 chr5:148361713-148442625 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011113 SHANK1 50944 19q13.33 chr19:51162512-51223059 1 Little evidence for dosage pathogenicity 34113010 36980980 0 No evidence available 2025-03-11 MONDO:0100038 SHANK2 22941 11q13.3-q13.4 chr11:70313959-70963623 3 Sufficient evidence for dosage pathogenicity 20473310 22346768 20531469 35456494 32987185 25188300 0 No evidence available 2023-10-26 MONDO:0100038 SHANK3 85358 22q13.33 chr22:51111251-51171640 3 Sufficient evidence for dosage pathogenicity 23758760 21984749 21779178 0 No evidence available 2018-08-14 MONDO:0011652 SHH 6469 7q36.3 chr7:155592674-155605157 3 Sufficient evidence for dosage pathogenicity 10556296 12567406 22791840 0 No evidence available 19431187 2020-06-24 MONDO:0007733 SHOC2 8036 10q25.2 chr10:112679128-112773423 0 No evidence available 24739123 0 No evidence available 2018-09-25 SHROOM4 57477 Xp11.22 chrX:50334642-50557194 0 No evidence available 0 No evidence available 2012-10-10 SI 6476 3q26.1 chr3:164696686-164796284 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009114 SIGLEC5 8778 19q13.41 chr19:52114213-52133654 40 Dosage sensitivity unlikely 32487729 28406212 25807282 26940866 32461654 0 No evidence available 2021-02-02 SIL1 64374 5q31.2 chr5:138282413-138534057 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2021-08-23 MONDO:0009567 SIM1 6492 6q16.3 chr6:100832885-100912797 0 No evidence available 0 No evidence available 2012-04-25 SIN3A 25942 15q24.2 chr15:75661720-75748156 3 Sufficient evidence for dosage pathogenicity 27399968 30267900 0 No evidence available 2020-01-13 MONDO:0013256 SIX1 6495 14q23.1 chr14:61110139-61116195 0 No evidence available 0 No evidence available 2012-03-22 SIX3 6496 2p21 chr2:45168841-45173210 3 Sufficient evidence for dosage pathogenicity 19346217 20157829 20531442 0 No evidence available 2020-09-23 MONDO:0007999 SIX4 51804 14q23.1 chr14:61176257-61191069 0 No evidence available 0 No evidence available 2012-05-08 SIX6 4990 14q23.1 chr14:60975864-60979568 0 No evidence available 0 No evidence available 2012-03-22 SKI 6497 1p36.33-p36.32 chr1:2159758-2241652 0 No evidence available 0 No evidence available 2012-01-06 SLC12A1 6557 15q21.1 chr15:48498499-48596275 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-28 MONDO:0100344 SLC12A3 6559 16q13 chr16:56899119-56949762 30 Gene associated with autosomal recessive phenotype 21415153 0 No evidence available 2012-02-23 MONDO:0009904 SLC13A5 284111 17p13.1 chr17:6588038-6616688 30 Gene associated with autosomal recessive phenotype 615905 0 No evidence available 2016-08-22 MONDO:0014392 SLC16A12 387700 10q23.31 chr10:91190056-91295351 1 Little evidence for dosage pathogenicity 18304496 0 No evidence available 2011-12-21 MONDO:0012786 SLC16A2 6567 Xq13.2 chrX:73641328-73753751 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-06-28 MONDO:0010354 SLC17A5 26503 6q13 chr6:74303102-74363715 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0019366 SLC17A8 246213 12q23.1 chr12:100750852-100815833 1 Little evidence for dosage pathogenicity 26797701 28647561 0 No evidence available 2022-02-08 MONDO:0019587 SLC1A2 6506 11p13 chr11:35272752-35441605 1 Little evidence for dosage pathogenicity 38693247 33057194 34961934 0 No evidence available 2025-09-11 MONDO:0100620 SLC22A14 9389 3p22.2 chr3:38323785-38360066 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 SLC22A18 5002 11p15.4 chr11:2920921-2946476 0 No evidence available 0 No evidence available 2012-03-22 SLC24A1 9187 15q22.31 chr15:65903688-65953340 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013450 SLC25A1 6576 22q11.21 chr22:19163094-19166249 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014072 SLC25A12 8604 2q31.1 chr2:172639915-172750754 0 No evidence available 0 No evidence available 2012-01-19 SLC25A13 10165 7q21.3 chr7:95749532-95951410 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011601 SLC25A19 60386 17q25.1 chr17:73269073-73285514 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0000152 SLC2A1 6513 1p34.2 chr1:43391024-43424539 3 Sufficient evidence for dosage pathogenicity 10980529 25532859 25564316 0 No evidence available 2016-03-24 MONDO:0012805 SLC2A10 81031 20q13.12 chr20:45338288-45364986 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-02-01 MONDO:0008818 SLC30A10 55532 1q41 chr1:220083787-220132440 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013208 SLC34A1 6569 5q35.3 chr5:176811435-176825849 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014851 SLC34A2 10568 4p15.2 chr4:25657473-25680370 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009928 SLC35A2 7355 Xp11.23 chrX:48760460-48769235 3 Sufficient evidence for dosage pathogenicity 27743886 24115232 23561849 0 No evidence available 2018-01-24 MONDO:0010478 SLC35C1 55343 11p11.2 chr11:45825623-45834567 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009953 SLC35D1 23169 1p31.3 chr1:67465033-67519831 30 Gene associated with autosomal recessive phenotype 19508970 0 No evidence available 2016-04-11 MONDO:0010013 SLC37A4 2542 11q23.3 chr11:118894822-118901587 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0002413 SLC38A5 92745 Xp11.23 chrX:48316927-48328648 0 No evidence available 0 No evidence available 2012-09-26 SLC38A8 146167 16q23.3 chr16:84043272-84076400 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012216 SLC3A1 6519 2p21 chr2:44502619-44548633 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-03-21 MONDO:0009067 SLC4A10 57282 2q24.2 chr2:162480926-162841780 1 Little evidence for dosage pathogenicity 17363630 0 No evidence available 2012-04-11 MONDO:0100038 SLC52A3 113278 20p13 chr20:740724-756628 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0024537 SLC5A1 6523 22q12.3 chr22:32439248-32509016 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011731 SLC6A1 6529 3p25.3 chr3:11034434-11080933 3 Sufficient evidence for dosage pathogenicity 23020937 25865495 28849312 0 No evidence available 2019-09-25 MONDO:0100038 SLC6A18 348932 5p15.33 chr5:1225496-1246304 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 SLC6A3 6531 5p15.33 chr5:1392909-1445555 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0054835 SLC6A4 6532 17q11.2 chr17:28521337-28562715 0 No evidence available 0 No evidence available 2012-05-10 SLC6A8 6535 Xq28 chrX:152953381-152962048 3 Sufficient evidence for dosage pathogenicity 29478817 23644449 23660394 0 No evidence available 2020-11-10 MONDO:0010305 SLC7A7 9056 14q11.2 chr14:23242431-23289000 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009109 SLC7A9 11136 19q13.11 chr19:33321417-33360673 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2021-08-23 MONDO:0009067 SLC9A6 10479 Xq26.3 chrX:135067594-135129428 3 Sufficient evidence for dosage pathogenicity 18342287 21812100 24630051 0 No evidence available 2020-12-08 MONDO:0010278 SLURP1 57152 8q24.3 chr8:143822367-143823824 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-06-08 MONDO:0009552 SMAD2 4087 18q21.1 chr18:45335328-45457243 0 No evidence available 0 No evidence available 2018-06-28 SMAD3 4088 15q22.33 chr15:67357940-67487507 3 Sufficient evidence for dosage pathogenicity 30661052 29907982 29392890 0 No evidence available 2020-04-22 MONDO:0013426 SMAD4 4089 18q21.2 chr18:48556583-48611412 3 Sufficient evidence for dosage pathogenicity 17873119 20101697 18823382 0 No evidence available 2020-12-16 MONDO:0008278 SMARCA2 6595 9p24.3 chr9:2015347-2193624 0 No evidence available 0 No evidence available 2013-03-27 MONDO:0011053 SMARCA4 6597 19p13.2 chr19:11071706-11172949 3 Sufficient evidence for dosage pathogenicity 20137775 23775540 33907931 25060813 24658001 24658004 0 No evidence available 2024-07-24 MONDO:0013224 SMARCB1 6598 22q11.23|22q11 chr22:24129153-24180196 3 Sufficient evidence for dosage pathogenicity 21108436 29706634 18285426 0 No evidence available 2020-04-22 MONDO:0012252 SMARCE1 6605 17q21.2 chr17:38781214-38804070 3 Sufficient evidence for dosage pathogenicity 23377182 27891692 25143307 26803492 37164167 30421029 0 No evidence available 2024-12-11 MONDO:0011789 SMC1A 8243 Xp11.22 chrX:53401070-53449677 3 Sufficient evidence for dosage pathogenicity 24896178 26386245 28166369 0 No evidence available 2018-07-23 MONDO:0010370 SMC3 9126 10q25.2 chr10:112327453-112365806 1 Little evidence for dosage pathogenicity 38297832 31178897 25125236 28191889 0 No evidence available 2025-04-08 MONDO:0100038 SMOC1 64093 14q24.2 chr14:70346133-70499083 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008800 SMOC2 64094 6q27 chr6:168841864-169068672 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0007436 SMS 6611 Xp22.11 chrX:21958827-22012955 3 Sufficient evidence for dosage pathogenicity 14508504 18550699 19206178 0 No evidence available 2012-08-23 MONDO:0010664 SNAP29 9342 22q11.21 chr22:21213295-21245502 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012290 SNORD107 91380 15q11.2 chr15:25227141-25227215 0 No evidence available 0 No evidence available 2012-04-24 SNORD108 338427 15q11.2 chr15:25232072-25232140 0 No evidence available 0 No evidence available 2012-07-06 SNORD109B 338429 15q11.2 chr15:25523490-25523556 0 No evidence available 0 No evidence available 2012-04-28 SNORD64 347686 15q11.2 chr15:25230247-25230313 0 No evidence available 0 No evidence available 2012-07-06 SNORD8 319103 14q11.2 chr14:21865452-21865560 0 No evidence available 0 No evidence available 2015-03-11 SNORD9 692053 14q11.2 chr14:21860310-21860412 0 No evidence available 0 No evidence available 2015-03-11 SNRPN 6638 15q11.2 chr15:25068784-25223870 0 No evidence available 0 No evidence available 2012-10-26 SNURF 8926 15q11.2 chr15:25200134-25223870 1 Little evidence for dosage pathogenicity 22511895 28554868 27659713 24311433 0 No evidence available 2023-03-28 SNX10 29887 7p15.2 chr7:26331482-26414003 30 Gene associated with autosomal recessive phenotype 29620724 23280965 29090071 27391121 36526684 27391121 0 No evidence available 2025-05-15 MONDO:0014040 SOBP 55084 6q21 chr6:107811321-107982510 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013353 SON 6651 21q22.11 chr21:34915344-34949787 3 Sufficient evidence for dosage pathogenicity 25590979 27256762 27545680 0 No evidence available 2019-04-24 MONDO:0014936 SOS1 6654 2p22.1 chr2:39208690-39352009 0 No evidence available 21387466 0 No evidence available 2026-02-11 SOST 50964 17q21.31 chr17:41831106-41836159 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-22 MONDO:0010016 SOX10 6663 22q13.1 chr22:38368319-38380562 3 Sufficient evidence for dosage pathogenicity 17999358 9462749 10077527 0 No evidence available 2013-07-18 MONDO:0013202 SOX11 6664 2p25.2 chr2:5832516-5841517 3 Sufficient evidence for dosage pathogenicity 18992374 26543203 24886874 35341651 39333428 0 No evidence available 2024-11-21 MONDO:0014376 SOX2 6657 3q26.33 chr3:181429713-181432224 3 Sufficient evidence for dosage pathogenicity 17522144 16543359 12612584 0 No evidence available 2012-07-06 MONDO:0008799 SOX3 6658 Xq27.1 chrX:139585150-139587234 0 No evidence available 2 Some evidence for dosage pathogenicity 15800844 35098650 25900196 26352083 31678974 25791725 2023-01-10 MONDO:0010252 SOX5 6660 12p12.1 chr12:23682438-24715425 3 Sufficient evidence for dosage pathogenicity 22290657 23498568 23220431 0 No evidence available 2016-08-19 MONDO:0014778 SOX8 30812 16p13.3 chr16:1031770-1036979 0 No evidence available 18492098 0 No evidence available 2012-02-22 SOX9 6662 17q24.3 chr17:70117161-70122557 3 Sufficient evidence for dosage pathogenicity 7990924 9002675 8001137 29542186 25983619 0 No evidence available 2023-05-10 MONDO:0007251 SPAST 6683 2p22.3 chr2:32288625-32382706 3 Sufficient evidence for dosage pathogenicity 24690193 28572275 15667412 0 No evidence available 2019-09-25 MONDO:0008438 SPATA7 55812 14q31.3 chr14:88852001-88904804 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011415 SPEG 10290 2q35 chr2:220299565-220358351 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014418 SPEN 23013 1p36.21-p36.13 chr1:16174202-16266951 3 Sufficient evidence for dosage pathogenicity 33596411 25363768 27525107 39431794 0 No evidence available 2026-01-13 MONDO:0859143 SPG21 51324 15q22.31 chr15:65255363-65282252 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009568 SPG7 6687 16q24.3 chr16:89574796-89624176 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011803 SPINK1 6690 5q32 chr5:147204145-147218759 3 Sufficient evidence for dosage pathogenicity 17681820 22427236 10835640 16823394 27578509 14722925 0 No evidence available 2021-10-25 MONDO:0008185 SPINK5 11005 5q32 chr5:147443543-147516945 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009735 SPP2 6694 2q37.1 chr2:234959346-234985778 0 No evidence available 0 No evidence available 2019-02-27 SPRED1 161742 15q14 chr15:38545037-38649450 3 Sufficient evidence for dosage pathogenicity 17704776 19443465 0 No evidence available 2013-03-14 MONDO:0012669 SPTAN1 6709 9q34.11 chr9:131314866-131395941 3 Sufficient evidence for dosage pathogenicity 31332438 40023774 36331550 33206935 33578420 30548380 0 No evidence available 2025-09-24 MONDO:0957875 SRCAP 10847 16p11.2 chr16:30710492-30752730 3 Sufficient evidence for dosage pathogenicity 33909990 25451714 0 No evidence available 2025-11-26 MONDO:0859202 SRD5A2 6716 2p23.1 chr2:31747550-31806007 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-22 MONDO:0009923 SRPX2 27286 Xq22.1 chrX:99899196-99930785 0 No evidence available 0 No evidence available 2012-07-25 SRRM2 23524 16p13.3 chr16:2802639-2821413 3 Sufficient evidence for dosage pathogenicity 35567594 0 No evidence available 2024-02-13 MONDO:0100038 SRSF1 6426 17q22 chr17:56078280-56084607 3 Sufficient evidence for dosage pathogenicity 37071997 33057194 32719394 0 No evidence available 2025-06-19 MONDO:0957583 SRSF11 9295 1p31.1 chr1:70671379-70718735 1 Little evidence for dosage pathogenicity 25363760 28263302 30257206 33057194 0 No evidence available 2025-04-08 MONDO:0100038 SRY 6736 Yp11.2 chrY:2654896-2655723 3 Sufficient evidence for dosage pathogenicity 1639410 1339396 7987333 0 No evidence available 2020-12-22 MONDO:0020712 ST14 6768 11q24.3 chr11:130029677-130080257 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011218 ST3GAL5 8869 2p11.2 chr2:86064243-86116157 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-09-25 MONDO:0018274 STAG1 10274 3q22.3 chr3:136055078-136471220 3 Sufficient evidence for dosage pathogenicity 28119487 30158690 34440290 39336775 39224759 0 No evidence available 2025-01-22 MONDO:0100038 STAG2 10735 Xq25 chrX:123094410-123236506 3 Sufficient evidence for dosage pathogenicity 28296084 30158690 31334757 33758131 0 No evidence available 2023-01-25 MONDO:0020119 STARD9 57519 15q15.2 chr15:42867804-43013196 0 No evidence available 28777490 28440294 0 No evidence available 2023-10-10 STAT1 6772 2q32.2 chr2:191833875-191878897 0 No evidence available 0 No evidence available 2013-09-18 STIL 6491 1p33 chr1:47715811-47780568 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012989 STK11 6794 19p13.3 chr19:1205777-1228430 3 Sufficient evidence for dosage pathogenicity 2563227 20623358 23892522 28231849 0 No evidence available 2021-11-10 MONDO:0008280 STRC 161497 15q15.3 chr15:43891761-43910998 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011364 STS 412 Xp22.31 chrX:7065331-7272682 3 Sufficient evidence for dosage pathogenicity 2813406 10692123 9252398 0 No evidence available 2018-09-13 MONDO:0010622 STT3A 3703 11q24.2 chr11:125462747-125492986 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-08-29 MONDO:0014270 STUB1 10273 16p13.3 chr16:730410-732801 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014339 STX11 8676 6q24.2 chr6:144471654-144513076 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011336 STXBP1 6812 9q34.11 chr9:130374191-130458308 3 Sufficient evidence for dosage pathogenicity 19557857 23409955 0 No evidence available 2013-06-20 MONDO:0012812 STXBP2 6813 19p13.2 chr19:7701996-7712759 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2025-07-09 SUCLG1 8802 2p11.2 chr2:84650652-84686404 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009504 SUFU 51684 10q24.32 chr10:104263729-104393292 3 Sufficient evidence for dosage pathogenicity 12068298 19833601 19533801 35768194 0 No evidence available 2026-01-14 MONDO:0007959 SUMF1 285362 3p26.1 chr3:4402830-4508953 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010088 SUPT16H 11198 14q11.2 chr14:21819635-21852178 0 No evidence available 0 No evidence available 2012-05-09 SURF1 6834 9q34.2 chr9:136218613-136223363 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009723 SUZ12 23512 17q11.2 chr17:30264026-30328057 0 No evidence available 0 No evidence available 2012-07-06 SYN1 6853 Xp11.3-p11.23 chrX:47431300-47479256 3 Sufficient evidence for dosage pathogenicity 14985377 21441247 34243774 34078716 30390306 0 No evidence available 2022-07-12 MONDO:0100148 SYNCRIP 10492 6q14.3 chr6:86317502-86352604 3 Sufficient evidence for dosage pathogenicity 34157790 33874999 0 No evidence available 2024-04-15 MONDO:0800456 SYNE4 163183 19q13.12 chr19:36494209-36499715 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014237 SYNGAP1 8831 6p21.32 chr6:33387842-33421466 3 Sufficient evidence for dosage pathogenicity 26989088 30541864 21237447 19196676 25533962 23708187 26079862 0 No evidence available 2021-11-09 MONDO:0100038 SYP 6855 Xp11.23 chrX:49044268-49056652 1 Little evidence for dosage pathogenicity 19377476 0 No evidence available 2018-09-26 MONDO:0010429 SYT14 255928 1q32.2 chr1:210111562-210344734 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013645 TAB2 23118 6q25.1 chr6:149539062-149732743 1 Little evidence for dosage pathogenicity 27452334 28464518 31959127 0 No evidence available 2020-05-27 MONDO:0014000 TACSTD2 4070 1p32.1 chr1:59041105-59042924 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008777 TAF13 6884 1p13.3 chr1:109606762-109618625 1 Little evidence for dosage pathogenicity 24463507 0 No evidence available 2019-05-22 MONDO:0005090 TAF2 6873 8q24.12 chr8:120743014-120845081 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014273 TAOK1 57551 17q11.2 chr17:27717381-27878921 3 Sufficient evidence for dosage pathogenicity 33565190 35091509 31230721 34740920 0 No evidence available 2023-06-28 MONDO:0000508 TARDBP 23435 1p36.22 chr1:11072711-11085549 0 No evidence available 19959528 18931000 0 No evidence available 2018-09-25 TBC1D20 128637 20p13 chr20:416124-443177 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014296 TBC1D5 9779 3p24.3 chr3:17198654-17784123 0 No evidence available 0 No evidence available 2015-10-30 TBCE 6905 1q42.3 chr1:235530742-235615756 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-05-17 MONDO:0009426 TBL1XR1 79718 3q26.32 chr3:176737132-176915270 3 Sufficient evidence for dosage pathogenicity 22495309 25425123 26740553 1 Little evidence for dosage pathogenicity 28574232 2019-03-27 MONDO:0014842 TBR1 10716 2q24.2 chr2:162272808-162282381 3 Sufficient evidence for dosage pathogenicity 24458984 25849321 23160955 0 No evidence available 2018-01-24 MONDO:0100038 TBX1 6899 22q11.21 chr22:19744226-19771116 1 Little evidence for dosage pathogenicity 25860641 30083032 29500247 23828768 26036351 0 No evidence available 2024-06-11 MONDO:0008644 TBX2 6909 17q23.2 chr17:59477204-59486827 1 Little evidence for dosage pathogenicity 28372585 0 No evidence available 2018-08-08 TBX20 57057 7p14.2 chr7:35242042-35293711 2 Some evidence for dosage pathogenicity 17668378 30820038 27510170 28553164 0 No evidence available 2023-05-10 MONDO:0005267 TBX22 50945 Xq21.1 chrX:79270252-79287273 3 Sufficient evidence for dosage pathogenicity 11559848 14729838 17868388 22784330 25373698 29932061 0 No evidence available 2023-03-28 MONDO:0010560 TBX3 6926 12q24.21 chr12:115108060-115121980 3 Sufficient evidence for dosage pathogenicity 12668170 28145909 12116211 0 No evidence available 2020-09-23 MONDO:0008411 TBX4 9496 17q23.2 chr17:59529783-59562471 3 Sufficient evidence for dosage pathogenicity 15106123 23592887 29120062 0 No evidence available 2019-12-11 MONDO:0007841 TBX5 6910 12q24.21 chr12:114791716-114846247 3 Sufficient evidence for dosage pathogenicity 24664498 10077612 12818525 0 No evidence available 2020-07-29 MONDO:0007732 TCF12 6938 15q21.3 chr15:57210288-57583508 3 Sufficient evidence for dosage pathogenicity 23354436 25271085 30858722 27158814 24648389 0 No evidence available 2023-08-16 MONDO:0014128 TCF20 6942 22q13.2|22q13.3 chr22:42556019-42679933 3 Sufficient evidence for dosage pathogenicity 27436265 25228304 28135719 0 No evidence available 2019-06-26 MONDO:0100038 TCF4 6925 18q21.2 chr18:52889416-53303188 3 Sufficient evidence for dosage pathogenicity 17478476 29604340 22045651 0 No evidence available 2020-07-08 MONDO:0012589 TCF7L2 6934 10q25.2-q25.3 chr10:114710006-114927437 1 Little evidence for dosage pathogenicity 25363768 0 No evidence available 2019-03-27 MONDO:0100038 TCIRG1 10312 11q13.2 chr11:67806492-67818362 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009815 TCN2 6948 22q12.2 chr22:31003161-31023258 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010149 TCOF1 6949 5q32-q33.1 chr5:149737260-149779856 3 Sufficient evidence for dosage pathogenicity 9042910 12114482 15340364 8875242 22317976 25790162 0 No evidence available 2021-04-28 MONDO:0007944 TCTN1 79600 12q24.11 chr12:111051934-111087235 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-23 MONDO:0013608 TCTN2 79867 12q24.31 chr12:124155660-124192946 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013482 TDGF1 6997 3p21.31 chr3:46616025-46623947 1 Little evidence for dosage pathogenicity 12073012 0 No evidence available 2011-12-27 TDP1 55775 14q32.11 chr14:90422271-90511108 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011801 TECPR2 9895 14q32.31 chr14:102829278-102968814 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014016 TECTA 7007 11q23.3 chr11:120971952-121062199 30 Gene associated with autosomal recessive phenotype 12746400 28012541 21520338 0 No evidence available 2018-02-07 MONDO:0011351 TERC 7012 3q26.2 chr3:169482398-169482848 3 Sufficient evidence for dosage pathogenicity 16284252 17640862 15098033 29051281 15238429 15238429 0 No evidence available 2026-01-21 MONDO:0007485 TERT 7015 5p15.33 chr5:1253282-1295183 1 Little evidence for dosage pathogenicity 17875000 16284252 32923861 0 No evidence available 2025-06-24 TEX26 122046 13q12.3 chr13:31506793-31549637 40 Dosage sensitivity unlikely 32487729 25807282 32461654 0 No evidence available 2021-02-03 TFAP2B 7021 6p12.3 chr6:50786584-50815332 3 Sufficient evidence for dosage pathogenicity 21643846 24507797 15684060 30579973 31292255 0 No evidence available 2023-04-11 MONDO:0008209 TFR2 7036 7q22.1 chr7:100218043-100239175 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011417 TGFBR1 7046 9q22.33 chr9:101867395-101916474 3 Sufficient evidence for dosage pathogenicity 21358634 29706644 33256177 25525159 0 No evidence available 2024-02-13 MONDO:0007566 TGFBR2 7048 3p24.1 chr3:30647994-30735634 0 No evidence available 18781618 16928994 0 No evidence available 2024-06-26 MONDO:0012427 TGIF1 7050 18p11.31 chr18:3412007-3459976 3 Sufficient evidence for dosage pathogenicity 16962354 12522553 22125506 0 No evidence available 2012-05-10 MONDO:0007734 TGM1 7051 14q12 chr14:24718320-24732383 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009441 TGM5 9333 15q15.2 chr15:43524788-43559126 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012345 THRA 7067 17q21.1 chr17:38218446-38250120 0 No evidence available 0 No evidence available 2013-08-22 TIGD6 81789 5q32 chr5:149372681-149380217 40 Dosage sensitivity unlikely 32487729 22344438 25807282 28406212 26940866 32461654 0 No evidence available 2021-02-03 TIMM8A 1678 Xq22.1 chrX:100600649-100603730 3 Sufficient evidence for dosage pathogenicity 11405816 17471106 22736418 17851739 30634948 31903733 0 No evidence available 2021-03-24 MONDO:0010578 TJP2 9414 9q21.11 chr9:71736180-71870124 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014381 TLX3 30012 5q35.1 chr5:170736252-170739143 0 No evidence available 0 No evidence available 2018-09-25 TMC6 11322 17q25.3 chr17:76103478-76128508 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009176 TMC8 147138 17q25.3 chr17:76126852-76139049 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009176 TMCO1 54499 1q24.1 chr1:165693528-165738159 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0031329 TMEM127 55654 2q11.2 chr2:96914252-96931735 3 Sufficient evidence for dosage pathogenicity 21156949 20154675 28384794 23551308 25389632 0 No evidence available 2021-07-13 MONDO:0017366 TMEM135 65084 11q14.2 chr11:86748976-87039866 0 No evidence available 0 No evidence available 2015-11-02 TMEM178A 130733 2p22.1 chr2:39892623-39945103 0 No evidence available 28191890 0 No evidence available 2024-10-23 TMEM216 51259 11q12.2 chr11:61160059-61166318 30 Gene associated with autosomal recessive phenotype 20512146 23351400 0 No evidence available 2025-06-30 MONDO:0005308 TMEM231 79583 16q23.1 chr16:75570639-75590184 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0015369 TMEM237 65062 2q33.1 chr2:202484909-202508226 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 MONDO:0013745 TMEM43 79188 3p25.1 chr3:14166552-14185180 0 No evidence available 0 No evidence available 2015-11-08 MONDO:0011459 TMEM67 91147 8q22.1 chr8:94767072-94831466 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0015369 TMEM94 9772 17q25.1 chr17:73452716-73496533 30 Gene associated with autosomal recessive phenotype 30526868 32825426 34374989 0 No evidence available 2025-03-31 MONDO:0032672 TMLHE 55217 Xq28 chrX:154718672-154842613 1 Little evidence for dosage pathogenicity 21865298 22566635 23092983 0 No evidence available 2013-08-01 MONDO:0005258 TMPRSS3 64699 21q22.3 chr21:43791999-43816161 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010987 TMPRSS6 164656 22q12.3 chr22:37461476-37505753 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008788 TNFRSF11B 4982 8q24.12 chr8:119935796-119964124 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009394 TNNC1 7134 3p21.1 chr3:52485116-52488057 0 No evidence available 0 No evidence available 2025-10-10 TNNI3 7137 19q13.42 chr19:55663135-55669100 1 Little evidence for dosage pathogenicity 18006163 28436080 27532257 26688388 18533079 29095814 0 No evidence available 2023-05-25 MONDO:0005045 TNNT1 7138 19q13.42 chr19:55644066-55660574 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011539 TNNT2 7139 1q32.1 chr1:201328142-201346808 0 No evidence available 0 No evidence available 2015-11-15 TNPO3 23534 7q32.1 chr7:128594239-128695165 0 No evidence available 0 No evidence available 2025-06-30 TNRC6B 23112 22q13.1 chr22:40440838-40731812 3 Sufficient evidence for dosage pathogenicity 25284784 25363768 27479843 0 No evidence available 2019-06-26 MONDO:0100038 TOP3B 8940 22q11.22 chr22:22311397-22337184 0 No evidence available 0 No evidence available 2022-07-13 TP53 7157 17p13.1 chr17:7571739-7590808 3 Sufficient evidence for dosage pathogenicity 26014290 21056402 28369373 26681312 12584563 0 No evidence available 2021-11-10 MONDO:0018875 TP63 8626 3q28 chr3:189314535-189615065 1 Little evidence for dosage pathogenicity 30850703 29130604 33622322 29500247 26117585 11462173 0 No evidence available 2023-05-10 MONDO:0016044 TP73 7161 1p36.32 chr1:3569080-3652765 0 No evidence available 0 No evidence available 2012-07-06 TPK1 27010 7q35 chr7:144149034-144533146 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013761 TPM1 7168 15q22.2 chr15:63334946-63364114 0 No evidence available 0 No evidence available 2015-11-09 TPM2 7169 9p13.3 chr9:35681990-35690053 1 Little evidence for dosage pathogenicity 24692096 27726070 0 No evidence available 2025-11-18 MONDO:0100196 TPO 7173 2p25.3 chr2:1417235-1547445 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010133 TPRN 286262 9q34.3 chr9:140086071-140095193 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013215 TPSAB1 7177 16p13.3 chr16:1290706-1292555 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 27749843 32717252 32777817 33465452 2025-08-07 MONDO:0850201 TPSD1 23430 16p13.3 chr16:1306070-1309009 40 Dosage sensitivity unlikely 32487729 25807282 32461654 0 No evidence available 2021-02-03 TRAF7 84231 16p13.3 chr16:2205783-2228130 0 No evidence available 0 No evidence available 2025-10-10 MONDO:0035661 TRAPPC10 7109 21q22.3 chr21:45432190-45526433 0 No evidence available 0 No evidence available 2012-09-06 TRAPPC2 6399 Xp22.2 chrX:13730364-13752739 3 Sufficient evidence for dosage pathogenicity 11252002 12919139 11349230 0 No evidence available 2014-01-16 MONDO:0010737 TRAPPC9 83696 8q24.3 chr8:140739968-141468678 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-08-06 MONDO:0013173 TRDN 10345 6q22.31 chr6:123537484-123958095 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0017990 TRHR 7201 8q23.1 chr8:110098814-110133794 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0032819 TRIM2 23321 4q31.3 chr4:154073315-154260469 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014208 TRIM32 22954 9q33.1 chr9:119449584-119463578 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009683 TRIM37 4591 17q22 chr17:57060010-57184241 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009664 TRIO 7204 5p15.2 chr5:14143451-14510313 3 Sufficient evidence for dosage pathogenicity 25533962 25363760 26721934 0 No evidence available 2018-01-24 MONDO:0000508 TRIOBP 11078 22q13.1 chr22:38093055-38172563 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012355 TRIP12 9320 2q36.3 chr2:230628553-230787902 3 Sufficient evidence for dosage pathogenicity 27848077 28251352 0 No evidence available 2018-04-02 MONDO:0030914 TRIP4 9325 15q22.31 chr15:64680035-64747502 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-08-16 MONDO:0014806 TRMT10A 93587 4q23 chr4:100467868-100485196 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0000208 TRMU 55687 22q13.31 chr22:46731611-46753237 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013111 TRPM1 4308 15q13.3 chr15:31293268-31453363 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013183 TRPS1 7227 8q23.3 chr8:116420724-116681202 3 Sufficient evidence for dosage pathogenicity 31662300 21740822 11112658 0 No evidence available 2020-07-08 MONDO:0008596 TRRAP 8295 7q22.1 chr7:98476155-98610864 1 Little evidence for dosage pathogenicity 28263302 23042115 0 No evidence available 2019-04-24 MONDO:0100038 TSC1 7248 9q34.13 chr9:135766736-135820003 3 Sufficient evidence for dosage pathogenicity 32917966 23389244 17304050 0 No evidence available 2020-10-13 MONDO:0001734 TSC2 7249 16p13.3 chr16:2097986-2139492 3 Sufficient evidence for dosage pathogenicity 31525612 10205261 29932062 0 No evidence available 2020-06-10 MONDO:0001734 TSEN2 80746 3p25.2 chr3:12525979-12581123 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012890 TSEN54 283989 17q25.1 chr17:73512609-73520816 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0020135 TSPAN7 7102 Xp11.4 chrX:38420795-38548172 1 Little evidence for dosage pathogenicity 12070254 10655063 26350204 0 No evidence available 2022-06-22 MONDO:0100284 TSPEAR 54084 21q22.3 chr21:45917776-46131487 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013929 TTC19 54902 17p12 chr17:15903138-15932718 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014063 TTC21B 79809 2q24.3 chr2:166729872-166810286 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013442 TTC37 9652 5q15 chr5:94799598-94890681 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0024541 TTC7A 57217 2p21 chr2:47143005-47303262 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009465 TTC8 123016 14q31.3 chr14:89290497-89347423 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014436 TTLL5 23093 14q24.3 chr14:76127589-76421422 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014372 TTN 7273 2q31.2 chr2:179390716-179672150 2 Some evidence for dosage pathogenicity 22335739 23418287 31489791 24503780 28045975 25589632 0 No evidence available 2026-01-05 MONDO:0005021 TTR 7276 18q12.1 chr18:29171840-29178784 0 No evidence available 0 No evidence available 2025-07-23 MONDO:0007100 TUBA1A 7846 12q13.12 chr12:49578578-49582863 0 No evidence available 0 No evidence available 2016-04-14 TUBB1 81027 20q13.32 chr20:57594484-57601709 1 Little evidence for dosage pathogenicity 28983057 32757236 0 No evidence available 2025-09-24 TUBB2B 347733 6p25.2 chr6:3224511-3227887 0 No evidence available 0 No evidence available 2025-09-09 MONDO:0000904 TUBB3 10381 16q24.3 chr16:89988333-90002505 0 No evidence available 0 No evidence available 2017-08-30 TUBB4A 10382 19p13.3 chr19:6494330-6502859 0 No evidence available 0 No evidence available 2014-11-19 TUBGCP6 85378 22q13.33 chr22:50656123-50683452 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009624 TUFM 7284 16p11.2 chr16:28853732-28857669 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012534 TUSC3 7991 8p22 chr8:15397596-15624158 30 Gene associated with autosomal recessive phenotype 18452889 21513506 23825019 25626710 27148795 Not yet evaluated Not yet evaluated 2021-12-01 MONDO:0001071 TWIST1 7291 7p21.1 chr7:19152670-19157259 3 Sufficient evidence for dosage pathogenicity 16251895 15923834 22544111 0 No evidence available 2020-12-16 MONDO:0007042 TWIST2 117581 2q37.3 chr2:239756726-239832230 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009203 TYMP 1890 22q13.33 chr22:50964181-50968514 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011283 TYROBP 7305 19q13.12 chr19:36395305-36399197 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0020749 TYRP1 7306 9p23 chr9:12693385-12710285 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008747 UBE2T 29089 1q32.1 chr1:202300785-202311064 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-09-01 MONDO:0014638 UBE3A 7337 15q11.2 chr15:25578875-25684203 3 Sufficient evidence for dosage pathogenicity 20034088 19213023 8988172 0 No evidence available 2012-08-23 MONDO:0007113 UBE3B 89910 12q24.11 chr12:109915439-109974507 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009485 UBN2 254048 7q34 chr7:138915983-138992982 1 Little evidence for dosage pathogenicity 25363768 28263302 25363760 31674007 0 No evidence available 2024-07-24 MONDO:0005258 UBR1 197131 15q15.2 chr15:43235095-43398236 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009479 UNC80 285175 2q34 chr2:210636556-210864020 30 Gene associated with autosomal recessive phenotype 26545877 26708753 26708751 27513830 30167850 29572195 0 No evidence available 2025-02-12 UNC93A 54346 6q27 chr6:167704803-167729502 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-03 UPB1 51733 22q11.23 chr22:24891300-24924358 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013164 UPF2 26019 10p14 chr10:11962021-12085169 0 No evidence available 0 No evidence available 2019-02-13 UPF3B 65109 Xq24 chrX:118967985-118986926 3 Sufficient evidence for dosage pathogenicity 19238151 20479756 17704778 22957832 31737052 22609145 0 No evidence available 2021-02-09 MONDO:0010398 UROD 7389 1p34.1 chr1:45477926-45481247 2 Some evidence for dosage pathogenicity 11295834 22382040 1634232 0 No evidence available 2024-10-04 MONDO:0100498 UROS 7390 10q26.2 chr10:127473549-127511827 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009902 USB1 79650 16q21 chr16:58033507-58055522 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2024-11-13 MONDO:0011405 USH1C 10083 11p15.1 chr11:17515447-17565963 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-07 MONDO:0010171 USH1G 124590 17q25.1 chr17:72912175-72919350 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011748 USH2A 7399 1q41 chr1:215796233-216596790 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010169 USP7 7874 16p13.2 chr16:8985954-9057763 3 Sufficient evidence for dosage pathogenicity 30679821 36466803 33012787 38221796 0 No evidence available 2024-04-22 MONDO:0014805 USP9X 8239 Xp11.4 chrX:40944698-41095832 3 Sufficient evidence for dosage pathogenicity 26833328 24607389 28377321 0 No evidence available 2024-11-27 MONDO:0020119 UVSSA 57654 4p16.3 chr4:1340996-1381837 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013834 VAMP7 6845 Xq28 and Yq12 chrY:57067838-57130289 0 No evidence available 0 No evidence available 2012-09-06 VAMP7 6845 Xq28 and Yq12 chrX:155111008-155173433 0 No evidence available 0 No evidence available 2012-09-06 VCX3A 51481 Xp22.31 chrX:6451659-6453159 0 No evidence available 40 Dosage sensitivity unlikely 2012-10-12 VEGFA 7422 6p21.1 chr6:43737946-43754224 1 Little evidence for dosage pathogenicity 20420808 22067973 29261186 30232381 0 No evidence available 2023-08-23 MONDO:0005453 VHL 7428 3p25.3 chr3:10183462-10195351 3 Sufficient evidence for dosage pathogenicity 20151405 33362845 0 No evidence available 2022-05-11 MONDO:0008667 VLDLR 7436 9p24.2 chr9:2621787-2660056 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0024542 VPS13A 23230 9q21.2 chr9:79792450-80036453 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008695 VPS13B 157680 8q22.2 chr8:100025502-100889808 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-06-26 MONDO:0008999 VPS26C 10311 21q22.13 chr21:38595721-38640409 0 No evidence available 0 No evidence available 2012-04-24 VPS37A 137492 8p22 chr8:17104467-17190964 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013962 VPS53 55275 17p13.3 chr17:411908-618079 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014370 WAC 51322 10p12.1|10p12.1-p11.2 chr10:28821708-28912041 3 Sufficient evidence for dosage pathogenicity 26757981 26264232 28263302 26795593 25356899 26325558 0 No evidence available 2018-02-28 MONDO:0018760 WAS 7454 Xp11.23 chrX:48542188-48549818 3 Sufficient evidence for dosage pathogenicity 28901403​ 12969986 23264593​ 35874699​ 9713366 35366317 0 No evidence available 2025-10-09 WDFY3 23001 4q21.23 chr4:85590750-85887843 3 Sufficient evidence for dosage pathogenicity 31327001 27824329 30564305 0 No evidence available 2023-10-10 MONDO:0100038 WDPCP 51057 2p15 chr2:63346694-63815611 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009008 WDR26 80232 1q42.11-q42.12 chr1:224572848-224622499 3 Sufficient evidence for dosage pathogenicity 28686853 33675273 33506510 32030560 34055682 0 No evidence available 2022-04-27 MONDO:0054636 WDR35 57539 2p24.1 chr2:20110024-20189866 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-06-19 MONDO:0013569 WDR45 11152 Xp11.23 chrX:48932101-48958116 3 Sufficient evidence for dosage pathogenicity 23435086 23687123 25044655 0 No evidence available 2015-04-09 MONDO:0010476 WDR62 284403 19q13.12 chr19:36545799-36596010 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0011435 WDR72 256764 15q21.3 chr15:53805938-54055075 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013181 WFS1 7466 4p16.1 chr4:6271577-6304992 0 No evidence available 0 No evidence available 2012-02-08 WHRN 25861 9q32 chr9:117164360-117267753 30 Gene associated with autosomal recessive phenotype 12833159 15841483 0 No evidence available 2016-08-22 MONDO:0011767 WNT7A 7476 3p25.1 chr3:13857755-13921568 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0019713 WRAP53 55135 17p13.1 chr17:7589389-7606820 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-12-15 MONDO:0013520 WRN 7486 8p12 chr8:30891326-31033654 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2024-10-04 MONDO:0010196 WT1 7490 11p13 chr11:32409321-32457085 3 Sufficient evidence for dosage pathogenicity 25613702 17551084 15503171 0 No evidence available 2022-01-25 MONDO:0008679 WWOX 51741 16q23.1-q23.2 chr16:78133551-79246564 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-11-08 MONDO:0013687 XDH 7498 2p23.1 chr2:31557187-31637608 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0010209 XIAP 331 Xq25 chrX:122993558-123047822 3 Sufficient evidence for dosage pathogenicity 17080092 20489057 24942515 25943627 0 No evidence available 2022-07-27 MONDO:0010385 XIST 7503 Xq13.2 chrX:73040486-73072588 3 Sufficient evidence for dosage pathogenicity 8265665 11896455 28947658 0 No evidence available 2020-04-22 MONDO:0026404 XPA 7507 9q22.33 chr9:100437191-100459622 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2024-02-14 MONDO:0010210 XPC 7508 3p25.1 chr3:14186647-14220101 30 Gene associated with autosomal recessive phenotype 19478817 8298653 10766188 33672602 Not yet evaluated Not yet evaluated 2024-05-08 MONDO:0010211 XPNPEP3 63929 22q13.2 chr22:41253152-41328819 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013163 XYLT1 64131 16p12.3 chr16:17195626-17564817 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014343 YAP1 10413 11q22.1 chr11:101981178-102104155 1 Little evidence for dosage pathogenicity 24462371 0 No evidence available 2014-11-13 MONDO:0007355 YARS1 8565 1p35.1 chr1:33240840-33282959 0 No evidence available 0 No evidence available 2025-07-08 MONDO:0015626 YTHDC1 91746 4q13.2 chr4:69176105-69215808 1 Little evidence for dosage pathogenicity 27824329 24463507 0 No evidence available 2019-04-24 MONDO:0100038 YTHDF3 253943 8q12.3 chr8:64081112-64125346 1 Little evidence for dosage pathogenicity 34708403 33057194 31785789 34312540 33004838 0 No evidence available 2025-04-03 MONDO:0100038 ZBTB18 10472 1q44 chr1:244211955-244220778 3 Sufficient evidence for dosage pathogenicity 24193349 28283832 27598823 0 No evidence available 2019-04-24 MONDO:0012869 ZBTB24 9841 6q21 chr6:109783797-109804422 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013553 ZC4H2 55906 Xq11.2 chrX:64135687-64254621 3 Sufficient evidence for dosage pathogenicity 31206972 29254829 23623388 0 No evidence available 2020-04-22 MONDO:0010758 ZDHHC15 158866 Xq13.3 chrX:74588262-74742872 0 No evidence available 0 No evidence available 2012-07-25 ZDHHC9 51114 Xq26.1 chrX:128937264-128977862 3 Sufficient evidence for dosage pathogenicity 17436253 20848651 24357419 26350204 26633542 29681091 0 No evidence available 2021-10-12 MONDO:0010427 ZEB2 9839 2q22.3 chr2:145141648-145277686 3 Sufficient evidence for dosage pathogenicity 16053902 15121779 19842203 0 No evidence available 29263819 2020-06-24 MONDO:0009341 ZFHX4 79776 8q21.13 chr8:77593482-77779517 3 Sufficient evidence for dosage pathogenicity 39148819 37434517 24038936 0 No evidence available 2025-09-09 MONDO:0800439 ZFPM2 23414 8q23.1 chr8:106330666-106816767 1 Little evidence for dosage pathogenicity 16103912 21525063 2470247 21739578 0 No evidence available 2021-09-20 MONDO:0005711 ZFYVE26 23503 14q24.1 chr14:68213239-68283307 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010044 ZIC1 7545 3q24 chr3:147127152-147134506 0 No evidence available 0 No evidence available 2021-07-19 ZIC2 7546 13q32.3 chr13:100634038-100639019 3 Sufficient evidence for dosage pathogenicity 19955556 28640243 0 No evidence available 2022-08-24 MONDO:0016296 ZIC3 7547 Xq26.3 chrX:136648286-136659850 3 Sufficient evidence for dosage pathogenicity 27821535 24123890 14681828 0 No evidence available 2020-12-02 MONDO:0010607 ZIC4 84107 3q24 chr3:147103833-147124330 0 No evidence available 0 No evidence available 2021-08-25 ZIM2 23619 19q13.43 chr19:57285915-57352094 0 No evidence available 0 No evidence available 2012-05-17 ZMYM3 9203 Xq13.1 chrX:70459474-70475047 0 No evidence available 8817323 36586412 0 No evidence available 2025-10-22 MONDO:0100038 ZMYND11 10771 10p15.3 chr10:176028-300577 3 Sufficient evidence for dosage pathogenicity 25217958 22542183 27626064 0 No evidence available 23375656 2018-03-28 MONDO:0800439 ZMYND15 84225 17p13.2 chr17:4643128-4649414 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014366 ZNF141 7700 4p16.3 chr4:331603-378657 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014090 ZNF264 9422 19q13.43 chr19:57702868-57734214 0 No evidence available 0 No evidence available 2012-05-10 ZNF292 23036 6q14.3 chr6:87865283-87975661 1 Little evidence for dosage pathogenicity 31723249 22495311 28191889 25849321 35982159 0 No evidence available 2023-10-25 MONDO:0100038 ZNF407 55628 18q22.3 chr18:72265106-72777627 0 No evidence available 0 No evidence available 2012-07-11 ZNF41 7592 Xp11.3 chrX:47304577-47342621 1 Little evidence for dosage pathogenicity 14628291 0 No evidence available 2012-10-24 MONDO:0019181 ZNF462 58499 9q31.2 chr9:109625447-109775915 3 Sufficient evidence for dosage pathogenicity 28513610 31361404 0 No evidence available 2020-01-16 MONDO:0032836 ZNF592 9640 15q25.3 chr15:85291823-85349676 0 No evidence available 0 No evidence available 2021-10-14 ZNF674 641339 Xp11.3 chrX:46357160-46404856 0 No evidence available 16385466 22126752 23871722 0 No evidence available 2023-03-28 ZNF711 7552 Xq21.1 chrX:84498997-84528363 1 Little evidence for dosage pathogenicity 19377476 27993705 31130284 34992252 0 No evidence available 2024-05-14 MONDO:0010430 ZNF81 347344 Xp11.23 chrX:47696301-47785026 0 No evidence available 0 No evidence available 2012-10-29 ZWILCH 55055 15q22.31 chr15:66797664-66842468 1 Little evidence for dosage pathogenicity 25363768 0 No evidence available 2019-04-24