Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABHD12 gene ABHD12 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674 Cataract;HP:0000518 32077159;29571850;28448692;24697911 False 3 100;0;0 1.3 True ENSG00000100997 ENSG00000100997 HGNC:15868 ADAMTS10 gene ADAMTS10 Expert list;Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive, MIM#277600 Cataract;HP:0000518 15368195;18567016;19836009 False 3 100;0;0 1.3 True ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert Review;Expert Review Green Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani 4 syndrome, recessive, MIM# 613195 Cataract;HP:0000518 19836009;22486325;24940034 False 3 100;0;0 1.3 True ENSG00000140470 ENSG00000140470 HGNC:17109 AGK gene AGK Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, MIM#212350;Cataract 38 MIM#614691 Cataract;HP:0000518 PMID: 22415731;25208612 False 3 100;0;0 1.3 True ENSG00000006530 ENSG00000006530 HGNC:21869 AGPS gene AGPS Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121 Cataract;HP:0000518 9553082;8611652;21990100;35986576 False 3 100;0;0 1.3 True ENSG00000018510 ENSG00000018510 HGNC:327 ALDH18A1 gene ALDH18A1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA MIM#219150;Spastic paraplegia 9A, autosomal dominant MIM#601162;Spastic paraplegia 9B, autosomal recessive MIM#616586;Cutis laxa, autosomal dominant 3 MIM#616603 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALG8 gene ALG8 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ih, MIM# 608104" Cataract;HP:0000518 39792033;26066342 False 3 100;0;0 1.3 True ENSG00000159063 ENSG00000159063 HGNC:23161 ANAPC1 gene ANAPC1 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Rothmund Thomson syndrome type 1, OMIM 618625 Cataract;HP:0000518 PMID: 31303264 False 3 100;0;0 1.3 True ENSG00000153107 ENSG00000153107 HGNC:19988 ATAD3A gene ATAD3A Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MIM# 618810" Cataract;HP:0000518 33845882;32607449 False 3 100;0;0 1.3 True ENSG00000197785 ENSG00000197785 HGNC:25567 B3GLCT gene B3GLCT Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome, MIM# 261540 Cataract;HP:0000518 18798333;19796186;32533185;32204707;31795264 False 3 100;0;0 1.3 True ENSG00000187676 ENSG00000187676 HGNC:20207 BCOR gene BCOR Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Microphthalmia, syndromic 2, MIM# 300166;Oculofaciocardiodental syndrome;Lenz microphthalmia Cataract;HP:0000518 29974297 False 3 100;0;0 1.3 True ENSG00000183337 ENSG00000183337 HGNC:20893 BFSP1 gene BFSP1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 33, multiple types, MIM# 611391 Cataract;HP:0000518 17225135;26694549;24379646;28450710;31842807;26694549 False 3 100;0;0 1.3 True ENSG00000125864 ENSG00000125864 HGNC:1040 BFSP2 gene BFSP2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 12, multiple types, MIM# 611597 Cataract;HP:0000518 10729115;10739768;15570218;24654948;21836522 False 3 100;0;0 1.3 True ENSG00000170819 ENSG00000170819 HGNC:1041 CAPN15 gene CAPN15 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318" Cataract;HP:0000518 32885237 False 3 100;0;0 1.3 True ENSG00000103326 ENSG00000103326 HGNC:11182 CDK9 gene CDK9 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160;CHARGE-like syndrome with retinal dystrophy Cataract;HP:0000518 40954203;33640901;30237576;26633546 False 3 100;0;0 1.3 True ENSG00000136807 ENSG00000136807 HGNC:1780 CHMP4B gene CHMP4B Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 31, multiple types MIM#605387 Cataract;HP:0000518 34722561;17701905;10682967;30078984 False 3 100;0;0 1.3 True ENSG00000101421 ENSG00000101421 HGNC:16171 CLPB gene CLPB Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271" Cataract;HP:0000518 37548286;36074910;28687938;25597510 False 3 100;0;0 1.3 True ENSG00000162129 ENSG00000162129 HGNC:30664 COG4 gene COG4 Expert Review Green;Literature Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Saul-Wilson syndrome, OMIM #618150;Congenital disorder of glycosylation, type IIj, OMIM #613489 Cataract;HP:0000518 31949312;30290151 False 3 100;0;0 1.3 True ENSG00000103051 ENSG00000103051 HGNC:18620 COL11A1 gene COL11A1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marshall syndrome (MIM#154780);Stickler syndrome, type II (MIM#604841) Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL18A1 gene COL18A1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1 MIM# 267750 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL2A1 gene COL2A1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Collagenopathy type 2 alpha 1, MONDO:0022800 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A1 gene COL4A1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted COL4A1-related disorder MONDO:0800461 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A5 gene COL4A5 Expert Review Green;Literature Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Alport syndrome 1, X-linked, MIM# 301050" Cataract;HP:0000518 37162688;33015404;32883240 False 3 100;0;0 1.3 True ENSG00000188153 ENSG00000188153 HGNC:2207 COPB1 gene COPB1 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Baralle-Macken syndrome, MIM# 619255" Cataract;HP:0000518 33632302;40396222 False 3 100;0;0 1.3 True ENSG00000129083 ENSG00000129083 HGNC:2231 CPAMD8 gene CPAMD8 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Anterior segment dysgenesis 8, MIM# 617319" Cataract;HP:0000518 39747279;32085876;27839872 False 3 100;0;0 1.3 True ENSG00000160111 ENSG00000160111 HGNC:23228 CRYAA gene CRYAA Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 9, multiple types, MIM# 604219 Cataract;HP:0000518 9467006;11006246;16735993;17724170;23255486 False 3 100;0;0 1.3 True ENSG00000160202 ENSG00000160202 HGNC:2388 CRYAB gene CRYAB Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 16, multiple types (MIM#613763) Cataract;HP:0000518 26402864 False 3 100;0;0 1.3 True ENSG00000109846 ENSG00000109846 HGNC:2389 CRYBA1 gene CRYBA1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 10, multiple types, MIM# 600881 Cataract;HP:0000518 9788845;14598164;34419537;33827296;31488069 False 3 100;0;0 1.3 True ENSG00000108255 ENSG00000108255 HGNC:2394 CRYBA2 gene CRYBA2 Expert Review Green;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cataract MONDO:0005129 Cataract;HP:0000518 23508780;37438446;21212184;38909969;34014271;28450710 False 3 100;0;0 1.3 True ENSG00000163499 ENSG00000163499 HGNC:2395 CRYBA4 gene CRYBA4 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 23, MIM# 610425 Cataract;HP:0000518 16960806;16960806;20577656 False 3 100;0;0 1.3 True ENSG00000196431 ENSG00000196431 HGNC:2396 CRYBB1 gene CRYBB1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 17, multiple types, MIM# 611544 Cataract;HP:0000518 12360425;16110300;17460281;21972112 False 3 100;0;0 1.3 True ENSG00000100122 ENSG00000100122 HGNC:2397 CRYBB2 gene CRYBB2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 3, multiple types, MIM# 601547 Cataract;HP:0000518 9158139;10634616;11424921;17234267 False 3 100;0;0 1.3 True ENSG00000244752 ENSG00000244752 HGNC:2398 CRYBB3 gene CRYBB3 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 22, MIM# 609741 Cataract;HP:0000518 15914629;23508780;34356085;33594837;33510601 False 3 100;0;0 1.3 True ENSG00000100053 ENSG00000100053 HGNC:2400 CRYGC gene CRYGC Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 2, multiple types, MIM# 604307 Cataract;HP:0000518 10521291;10914683;12011157;19204787;22052681 False 3 100;0;0 1.3 True ENSG00000163254 ENSG00000163254 HGNC:2410 CRYGD gene CRYGD Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 4, multiple types, MIM# 115700 Cataract;HP:0000518 9927684;10915766;12676897;17724170 False 3 100;0;0 1.3 True ENSG00000118231 ENSG00000118231 HGNC:2411 CRYGS gene CRYGS Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 20, multiple types MIM#116100 Cataract;HP:0000518 34014271;16141006;18587492;19262743 False 3 100;0;0 1.3 True ENSG00000213139 ENSG00000213139 HGNC:2417 CTDP1 gene CTDP1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168 Cataract;HP:0000518 14517542;24690360 False 3 100;0;0 1.3 True ENSG00000060069 ENSG00000060069 HGNC:2498 CYP27A1 gene CYP27A1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis MIM#213700 Cataract;HP:0000518 2019602 False 3 100;0;0 1.3 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP51A1 gene CYP51A1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Congenital cataract;infantile liver disease Cataract;HP:0000518 22935719;26622071;27878435;25148791 False 3 100;0;0 1.3 True ENSG00000001630 ENSG00000001630 HGNC:2649 DHCR7 gene DHCR7 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM#270400 Cataract;HP:0000518 18076100;9880216 False 3 100;0;0 1.3 True ENSG00000172893 ENSG00000172893 HGNC:2860 DNMBP gene DNMBP Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract 48, MIM#618415 Cataract;HP:0000518 30290152 False 3 100;0;0 1.3 True ENSG00000107554 ENSG00000107554 HGNC:30373 DPAGT1 gene DPAGT1 Expert Review;Expert Review Green Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, MIM# 608093;DPAGT1-CDG MONDO:0011964 Cataract;HP:0000518 12872255;22492991;22304930;31153949;30653653;30117111 False 3 100;0;0 1.3 True ENSG00000172269 ENSG00000172269 HGNC:2995 EBP gene EBP Expert Review Green;Literature Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Chondrodysplasia punctata, X-linked dominant, MIM# 302960;MEND syndrome, MIM# 300960" Cataract;HP:0000518 33147667;29851033;25846959;25814754 False 3 100;0;0 1.3 True ENSG00000147155 ENSG00000147155 HGNC:3133 EIF2B2 gene EIF2B2 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal leukodystrophy;congenital cataracts;Leukoencephalopathy with vanishing white matter, MIM# 603896 Cataract;HP:0000518 21484434;14566705;28041799 False 3 100;0;0 1.3 True ENSG00000119718 ENSG00000119718 HGNC:3258 ELP4 gene ELP4 Expert Review Green;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246 Cataract;HP:0000518 24290376;17679951;22991255;26010655 False 3 100;0;0 1.3 True Other ENSG00000109911 ENSG00000109911 HGNC:1171 EPG5 gene EPG5 Expert Review;Expert Review Green Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, MIM# 242840 Cataract;HP:0000518 23222957;26917586 False 3 100;0;0 1.3 True ENSG00000152223 ENSG00000152223 HGNC:29331 EPHA2 gene EPHA2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 6, multiple types, MIM# 116600 Cataract;HP:0000518 19005574;19649315;19306328;33671840;35918037;34638995 False 3 100;0;0 1.3 True ENSG00000142627 ENSG00000142627 HGNC:3386 ERCC2 gene ERCC2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 2, MIM# 610756 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group B, MIM# 610651 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780" Cataract;HP:0000518 33766032;32557569 False 3 100;0;0 1.3 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, MIM#133540;Cerebrooculofacioskeletal syndrome 1, MIM#214150 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM# 216400 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000049167 ENSG00000049167 HGNC:3439 FAM126A gene FAM126A Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 5, MIM#610532 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000122591 ENSG00000122591 HGNC:24587 FAR1 gene FAR1 Expert Review Green;Literature Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataracts, spastic paraparesis, and speech delay, MIM#619338;Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 Cataract;HP:0000518 33239752;25439727 False 3 100;0;0 1.3 True ENSG00000197601 ENSG00000197601 HGNC:26222 FBN1 gene FBN1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Marfan syndrome, MIM# 154700;Weill-Marchesani syndrome 2, dominant, MIM# 608328" Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000166147 ENSG00000166147 HGNC:3603 FOSL2 gene FOSL2 Expert Review Green;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 Cataract;HP:0000518 36197437 False 3 100;0;0 1.3 True ENSG00000075426 ENSG00000075426 HGNC:3798 FOXE3 gene FOXE3 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256;Cataract 34, multiple types, MIM# 612968 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000186790 ENSG00000186790 HGNC:3808 FTL gene FTL Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperferritinemia-cataract syndrome, MIM# 600886 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000087086 ENSG00000087086 HGNC:3999 FYCO1 gene FYCO1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract 18, MIM#610019 Cataract;HP:0000518 32355443 False 3 100;0;0 1.3 True ENSG00000163820 ENSG00000163820 HGNC:14673 GALK1 gene GALK1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts MIM#230200 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000108479 ENSG00000108479 HGNC:4118 GALM gene GALM Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal galactosaemia;type IV galactosaemia Cataract;HP:0000518 30451973;30910422 False 3 100;0;0 1.3 True ENSG00000143891 ENSG00000143891 HGNC:24063 GALT gene GALT Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MIM# 230400 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000213930 ENSG00000213930 HGNC:4135 GBA2 gene GBA2 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 46, autosomal recessive, MIM# 614409" Cataract;HP:0000518 38334933;28052128 False 3 100;0;0 1.3 True ENSG00000070610 ENSG00000070610 HGNC:18986 GCNT2 gene GCNT2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract 13 with adult i phenotype, OMIM # 116700 Cataract;HP:0000518 15161861;27936067;12424189;28224043 False 3 100;0;0 1.3 True ENSG00000111846 ENSG00000111846 HGNC:4204 GEMIN4 gene GEMIN4 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913" Cataract;HP:0000518 25558065;27878435 False 3 50;50;0 1.3 True ENSG00000179409 ENSG00000179409 HGNC:15717 GFER gene GFER Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076 Cataract;HP:0000518 19409522;25269795;28155230 False 3 100;0;0 1.3 True ENSG00000127554 ENSG00000127554 HGNC:4236 GJA3 gene GJA3 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 14, multiple types MIM#601885 Cataract;HP:0000518 10205266;15286166;15448617;21681855;22312188;22550389;22876138 False 3 100;0;0 1.3 True ENSG00000121743 ENSG00000121743 HGNC:4277 GJA8 gene GJA8 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 1, multiple types, MIM# 116200;Microphthalmia Cataract;HP:0000518 30498267;29464339;10480374;18006672 False 3 100;0;0 1.3 True ENSG00000121634 ENSG00000121634 HGNC:4281 GNAS gene GNAS Expert Review Green;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Disorder of GNAS inactivation MONDO:0800466 Cataract;HP:0000518 29136292;26387561 False 3 100;0;0 1.3 True ENSG00000087460 ENSG00000087460 HGNC:4392 GNPAT gene GNPAT Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000116906 ENSG00000116906 HGNC:4416 GTF2H5 gene GTF2H5 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive (MIM# 616395) Cataract;HP:0000518 15220921,24986372 False 3 100;0;0 1.3 True ENSG00000272047 ENSG00000272047 HGNC:21157 HMX1 gene HMX1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculoauricular syndrome, MIM#612109 Cataract;HP:0000518 18423520;25574057;33465110;32552830;31691317 False 3 100;0;0 1.3 True ENSG00000215612 ENSG00000215612 HGNC:5017 HSF4 gene HSF4 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 5, multiple types, 116800 Cataract;HP:0000518 31815953;29243736;26490182 False 3 100;0;0 1.3 True ENSG00000102878 ENSG00000102878 HGNC:5227 HTRA2 gene HTRA2 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria type VIII (617248) Cataract;HP:0000518 PMID: 27696117;27208207 False 3 100;0;0 1.3 True ENSG00000115317 ENSG00000115317 HGNC:14348 IARS2 gene IARS2 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007" Cataract;HP:0000518 39994538;36704128;30419932;29914532;28328135;27078007 False 3 100;0;0 1.3 True ENSG00000067704 ENSG00000067704 HGNC:29685 INPP5K gene INPP5K Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404 Cataract;HP:0000518 28190456;28190459;28940338;31630891;33193651;33792664 False 3 100;0;0 1.3 True ENSG00000132376 ENSG00000132376 HGNC:33882 INTS1 gene INTS1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 Cataract;HP:0000518 28542170;30622326;31428919 False 3 100;0;0 1.3 True ENSG00000164880 ENSG00000164880 HGNC:24555 ISPD gene ISPD Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643" Cataract;HP:0000518 22522421;22522420 False 3 100;0;0 1.3 True ENSG00000214960 ENSG00000214960 HGNC:37276 JAG1 gene JAG1 Expert Review Green;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Alagille syndrome 1, MIM# 118450" Cataract;HP:0000518 40257159;37337769;32883240 False 3 100;0;0 1.3 True ENSG00000101384 ENSG00000101384 HGNC:6188 JAM3 gene JAM3 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Cataract;HP:0000518 23255084;21109224 False 3 100;0;0 1.3 True ENSG00000166086 ENSG00000166086 HGNC:15532 KIAA1109 gene KIAA1109 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Alkuraya-Kucinskas syndrome, MIM# 617822" Cataract;HP:0000518 29290337 False 3 100;0;0 1.3 True ENSG00000138688 ENSG00000138688 HGNC:26953 LETM1 gene LETM1 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Cataract;HP:0000518 36055214 False 3 100;0;0 1.3 True ENSG00000168924 ENSG00000168924 HGNC:6556 LIM2 gene LIM2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 19, multiple types, MIM# 615277 Cataract;HP:0000518 7814360;11917274;18596884;33708862;32202185;21617753 False 3 100;0;0 1.3 True ENSG00000105370 ENSG00000105370 HGNC:6610 LONP1 gene LONP1 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal CODAS syndrome MIM# 600373 Cataract;HP:0000518 PMID: 25574826;29408517. False 3 100;0;0 1.3 True ENSG00000196365 ENSG00000196365 HGNC:9479 LSS gene LSS Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract 44 MIM#616509 Cataract;HP:0000518 26200341;29016354 False 3 100;0;0 1.3 True ENSG00000160285 ENSG00000160285 HGNC:6708 MAF gene MAF Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 21, multiple types, MIM# 610202;Ayme-Gripp syndrome, MIM# 601088 Cataract;HP:0000518 38927621 False 3 100;0;0 1.3 True ENSG00000178573 ENSG00000178573 HGNC:6776 MAN2B1 gene MAN2B1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM# 248500;MONDO:0009561 Cataract;HP:0000518 18651971;9158146;9758606;9915946;22161967 False 3 100;0;0 1.3 True ENSG00000104774 ENSG00000104774 HGNC:6826 MBTPS1 gene MBTPS1 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "CAOP syndrome, MIM# 621252;Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM# 618392" Cataract;HP:0000518 38337829;38135440;36714646;35362222;32420688 False 3 100;0;0 1.3 True ENSG00000140943 ENSG00000140943 HGNC:15456 MED27 gene MED27 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Cataract;HP:0000518 33443317 False 3 100;0;0 1.3 True ENSG00000160563 ENSG00000160563 HGNC:2377 MIP gene MIP Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 15, multiple types, MIM# 615274 Cataract;HP:0000518 10802646;16564824;33530927;30214549 False 3 100;0;0 1.3 True ENSG00000135517 ENSG00000135517 HGNC:7103 MIR184 gene MIR184 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EDICT syndrome, MIM# 614303 Cataract;HP:0000518 21996275;22131394;25373792;24138095 False 3 100;0;0 1.3 True ENSG00000207695 ENSG00000207695 HGNC:31555 MIR204 gene MIR204 Expert Review Green;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Cataract;HP:0000518 26056285;37321975;38867642;20713703;31332443 False 3 100;0;0 1.3 True Other ENSG00000207935 ENSG00000207935 HGNC:31582 MSMO1 gene MSMO1 Expert list;Expert Review Green Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834;MONDO:0014793 Cataract;HP:0000518 21285510;24144731;28673550 False 3 100;0;0 1.3 True ENSG00000052802 ENSG00000052802 HGNC:10545 MT-TG gene MT-TG Expert list;Expert Review Green Cataract Ophthalmological disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TG-related Cataract;HP:0000518 8079988;9199564;11971101;16120360;32337339;35432167;10090480 False 3 100;0;0 1.3 True ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TH gene MT-TH Expert list;Expert Review Green Cataract Ophthalmological disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TH-related Cataract;HP:0000518 12682337;14967777;15111688;21704194;21931169;23696415;35092007;24920829;21704194 False 3 100;0;0 1.3 True ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TS2 gene MT-TS2 Expert list;Expert Review Green Cataract Ophthalmological disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TS2-related Cataract;HP:0000518 9792552;10090882;16950817;21257182;22369973;22378285 False 3 100;0;0 1.3 True ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TV gene MT-TV Expert list;Expert Review Green Cataract Ophthalmological disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TV-related Cataract;HP:0000518 9450773;12056939;19252805;15320572;18314141;24691472;39468830 False 3 100;0;0 1.3 True ENSG00000210077 ENSG00000210077 HGNC:7500 MVK gene MVK Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Mevalonic aciduria, MIM# 610377" Cataract;HP:0000518 33917151 False 3 100;0;0 1.3 True ENSG00000110921 ENSG00000110921 HGNC:7530 MYH9 gene MYH9 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Cataract;HP:0000518 40534807 False 3 100;0;0 1.3 True ENSG00000100345 ENSG00000100345 HGNC:7579 NACC1 gene NACC1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393) Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000160877 ENSG00000160877 HGNC:20967 NDP gene NDP Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease (MIM# 310600) Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000124479 ENSG00000124479 HGNC:7678 NF2 gene NF2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 2 (MIM# 101000) Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000186575 ENSG00000186575 HGNC:7773 NHS gene NHS Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nance-Horan syndrome (MIM# 302350) Cataract;HP:0000518 31755796 False 3 100;0;0 1.3 True ENSG00000188158 ENSG00000188158 HGNC:7820 NOD2 gene NOD2 Expert Review Green;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Blau syndrome, MIM# 186580" Cataract;HP:0000518 38180755 False 3 100;0;0 1.3 True ENSG00000167207 ENSG00000167207 HGNC:5331 NUP188 gene NUP188 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Sandestig-Stefanova syndrome, 618804;microcephaly;ID;cataract;structural brain abnormalities;hypoventilation Cataract;HP:0000518 32021605;28726809;32275884 False 3 100;0;0 1.3 True ENSG00000095319 ENSG00000095319 HGNC:17859 OAT gene OAT Expert list;Expert Review Green Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 Cataract;HP:0000518 22674428;11297489 False 3 100;0;0 1.3 True ENSG00000065154 ENSG00000065154 HGNC:8091 OCRL gene OCRL Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Oculocerebrorenal syndrome MONDO:0010645 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000122126 ENSG00000122126 HGNC:8108 OPA3 gene OPA3 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy 3 with cataract, MIM#165300 Cataract;HP:0000518 39166438;25159689;28050599;22797356;31119193;24136862;15342707 False 3 100;0;0 1.3 True ENSG00000125741 ENSG00000125741 HGNC:8142 P3H2 gene P3H2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292 Cataract;HP:0000518 21885030;24172257;25469533 False 3 100;0;0 1.3 True ENSG00000090530 ENSG00000090530 HGNC:19317 PARK7 gene PARK7 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Parkinson disease 7, autosomal recessive early-onset, MIM# 606324" Cataract;HP:0000518 40127637;31028127;27460976 False 3 100;0;0 1.3 True ENSG00000116288 ENSG00000116288 HGNC:16369 PAX6 gene PAX6 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PAX6-related ocular dysgenesis MONDO:0800183 Cataract;HP:0000518 31700164;30986449;29930474;22171686 False 3 100;0;0 1.3 True ENSG00000007372 ENSG00000007372 HGNC:8620 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100) Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B - MIM#614920 Cataract;HP:0000518 38423277 False 3 100;0;0 1.3 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883) Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110) Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000112357 ENSG00000112357 HGNC:8860 PIK3C2A gene PIK3C2A Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome, MIM# 618440 Cataract;HP:0000518 31034465 False 3 100;0;0 1.3 True ENSG00000011405 ENSG00000011405 HGNC:8971 PISD gene PISD Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract;HP:0000518 31263216;30858161 False 3 100;0;0 1.3 True ENSG00000241878 ENSG00000241878 HGNC:8999 PITX3 gene PITX3 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623 Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000107859 ENSG00000107859 HGNC:9006 PLOD3 gene PLOD3 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Lysyl hydroxylase 3 deficiency, MIM#612394 Cataract;HP:0000518 18834968;30463024;31129566 False 3 100;0;0 1.3 True ENSG00000106397 ENSG00000106397 HGNC:9083 POLG gene POLG Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal POLG-related disorders Cataract;HP:0000518 20301791;29358615;22405928 False 3 100;0;0 1.3 True ENSG00000140521 ENSG00000140521 HGNC:9179 POMGNT1 gene POMGNT1 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280" Cataract;HP:0000518 38137617;28765568 False 3 100;0;0 1.3 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMT2 gene POMT2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract;HP:0000518 False 3 100;0;0 1.3 True ENSG00000009830 ENSG00000009830 HGNC:19743 PRX gene PRX Expert Review Green;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract, MONDO:0005129, PRX-related Cataract;HP:0000518 41230902;36161833;27081207 False 3 100;0;0 1.3 True ENSG00000105227 ENSG00000105227 HGNC:13797 PXDN gene PXDN Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400 Cataract;HP:0000518 21907015;24939590;32499604;32224865;32015378;31817535 False 3 100;0;0 1.3 True ENSG00000130508 ENSG00000130508 HGNC:14966 RAB18 gene RAB18 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, MIM# 614222 Cataract;HP:0000518 11237903;23420520 False 3 100;0;0 1.3 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Warburg micro syndrome 1, MIM# 600118;Martsolf syndrome 2, MIM# 619420" Cataract;HP:0000518 15696165;20512159;23420520;23420520;30730599 False 3 100;0;0 1.3 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 2, MIM# 614225 Cataract;HP:0000518 23420520;20967465 False 3 100;0;0 1.3 True ENSG00000118873 ENSG00000118873 HGNC:17168 RECQL4 gene RECQL4 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Rothmund-Thomson syndrome, type 2, MIM# 268400" Cataract;HP:0000518 40485636;37228773;36164748;33294214 False 3 100;0;0 1.3 True ENSG00000160957 ENSG00000160957 HGNC:9949 SC5D gene SC5D Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Lathosterolosis, MIM# 607330 Cataract;HP:0000518 17853487;12189593;12812989;24142275 False 3 100;0;0 1.3 True ENSG00000109929 ENSG00000109929 HGNC:10547 SIL1 gene SIL1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome (MIM#248800) Cataract;HP:0000518 16282977;24176978 False 3 100;0;0 1.3 True ENSG00000120725 ENSG00000120725 HGNC:24624 SLC16A12 gene SLC16A12 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 47, juvenile, with microcornea 612018 Cataract;HP:0000518 20181839;21778275;18304496;29088427 False 3 100;0;0 1.3 True ENSG00000152779 ENSG00000152779 HGNC:23094 SLC2A1 gene SLC2A1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GLUT1 deficiency syndrome MONDO:0000188;Stomatin-deficient cryohydrocytosis with neurologic defects, MIM# 608885 Cataract;HP:0000518 22492876 False 3 100;0;0 1.3 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC33A1 gene SLC33A1 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Cataract;HP:0000518 31194315 False 3 100;0;0 1.3 True ENSG00000169359 ENSG00000169359 HGNC:95 SRD5A3 gene SRD5A3 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Kahrizi syndrome, MIM# 612713" Cataract;HP:0000518 34925443 False 3 100;0;0 1.3 True ENSG00000128039 ENSG00000128039 HGNC:25812 SREBF1 gene SREBF1 Expert Review;Expert Review Green Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mucoepithelial dysplasia, hereditary, MIM#158310 Cataract;HP:0000518 31790666;32902915 False 3 100;0;0 1.3 True ENSG00000072310 ENSG00000072310 HGNC:11289 TDRD7 gene TDRD7 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract 36 613887;glaucoma;nonobstructive azoospermia;arrested spermatogenesis Cataract;HP:0000518 28837160;21436445;32420594 False 3 100;0;0 1.3 True ENSG00000196116 ENSG00000196116 HGNC:30831 TELO2 gene TELO2 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "You-Hoover-Fong syndrome, MIM# 616954" Cataract;HP:0000518 37215500;36797513;28944240 False 3 100;0;0 1.3 True ENSG00000100726 ENSG00000100726 HGNC:29099 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome, MIM# 113620 Cataract;HP:0000518 36263936 False 3 100;0;0 1.3 True ENSG00000137203 ENSG00000137203 HGNC:11742 TKT gene TKT Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Short stature, developmental delay, and congenital heart defects, MIM# 617044" Cataract;HP:0000518 27259054 False 3 100;0;0 1.3 True ENSG00000163931 ENSG00000163931 HGNC:11834 TONSL gene TONSL Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Spondyloepimetaphyseal dysplasia, sponastrime type, MIM# 271510" Cataract;HP:0000518 30773277 False 3 100;0;0 1.3 True ENSG00000160949 ENSG00000160949 HGNC:7801 TOR1AIP1 gene TOR1AIP1 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, TOR1AIP1-related Cataract;HP:0000518 32055997;30723199 False 3 100;0;0 1.3 True ENSG00000143337 ENSG00000143337 HGNC:29456 TRAPPC11 gene TRAPPC11 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356" Cataract;HP:0000518 34648194;26322222 False 3 100;0;0 1.3 True ENSG00000168538 ENSG00000168538 HGNC:25751 TRNT1 gene TRNT1 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084" Cataract;HP:0000518 36937953;34864912;27389523 False 3 100;0;0 1.3 True ENSG00000072756 ENSG00000072756 HGNC:17341 USP9X gene USP9X Expert Review Green;Literature Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, MIM# 300968" Cataract;HP:0000518 38099911;37895297 False 3 100;0;0 1.3 True ENSG00000124486 ENSG00000124486 HGNC:12632 VIM gene VIM Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 30, pulverulent, MIM# 116300 Cataract;HP:0000518 26694549 False 3 100;0;0 1.3 True ENSG00000026025 ENSG00000026025 HGNC:12692 VPS13B gene VPS13B Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cohen syndrome, MIM# 216550" Cataract;HP:0000518 40813981;37901634;32915983 False 3 100;0;0 1.3 True ENSG00000132549 ENSG00000132549 HGNC:2183 VPS4A gene VPS4A Expert Review Green;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome MIM# 619273 Cataract;HP:0000518 PMID: 33186543;33186545 False 3 100;0;0 1.3 True Other ENSG00000132612 ENSG00000132612 HGNC:13488 VSX2 gene VSX2 Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia with coloboma 3, MIM# 610092 Cataract;HP:0000518 15257456;17661825;31884615;28121235;27301076;24033328 False 3 100;0;0 1.3 True ENSG00000119614 ENSG00000119614 HGNC:1975 WFS1 gene WFS1 Expert list;Expert Review Green Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Wolfram syndrome 1, MIM# 222300" Cataract;HP:0000518 32350710 False 3 100;0;0 1.3 True ENSG00000109501 ENSG00000109501 HGNC:12762 WRN gene WRN Expert Review Green;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Werner syndrome, MIM# 277700;MONDO:0010196 Cataract;HP:0000518 28476236;8602509;8968742;9012406 False 3 100;0;0 1.3 True ENSG00000165392 ENSG00000165392 HGNC:12791 XYLT2 gene XYLT2 Expert list;Expert Review Green Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Spondyloocular syndrome, MIM# 605822" Cataract;HP:0000518 26027496 False 3 100;0;0 1.3 True ENSG00000015532 ENSG00000015532 HGNC:15517 ZBTB11 gene ZBTB11 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 69, MIM# 618383" Cataract;HP:0000518 38899514 False 3 100;0;0 1.3 True ENSG00000066422 ENSG00000066422 HGNC:16740 ZNF526 gene ZNF526 Expert Review Green;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Cataract;HP:0000518 21937992;25558065;33397746 False 3 100;0;0 1.3 True ENSG00000167625 ENSG00000167625 HGNC:29415 ADD3 gene ADD3 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Cerebral palsy, spastic quadriplegic, 3 617008" Cataract;HP:0000518 PMID: 29768408;23836506 False 2 0;100;0 1.3 True ENSG00000148700 ENSG00000148700 HGNC:245 ARCN1 gene ARCN1 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Cataract;HP:0000518 35300924 False 2 0;100;0 1.3 True ENSG00000095139 ENSG00000095139 HGNC:649 CENPF gene CENPF Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Stromme syndrome, MIM# 243605" Cataract;HP:0000518 26820108 False 2 0;100;0 1.3 True ENSG00000117724 ENSG00000117724 HGNC:1857 CHD7 gene CHD7 Expert Review Amber;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "CHARGE syndrome, MIM# 214800" Cataract;HP:0000518 38597178;32436650 False 2 0;100;0 1.3 True ENSG00000171316 ENSG00000171316 HGNC:20626 COL4A2 gene COL4A2 Expert Review Amber;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract (MONDO:0005129), COL4A2-related Cataract;HP:0000518 PMID: 26708157;24203695 False 2 0;100;0 1.3 True ENSG00000134871 ENSG00000134871 HGNC:2203 COL9A1 gene COL9A1 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, MIM#614134 Cataract;HP:0000518 PMID: 21421862;16909383 False 2 50;50;0 1.3 True ENSG00000112280 ENSG00000112280 HGNC:2217 CWC27 gene CWC27 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410" Cataract;HP:0000518 38840272;31481716 False 2 0;100;0 1.3 True ENSG00000153015 ENSG00000153015 HGNC:10664 DNA2 gene DNA2 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 4, MIM# 620819 Cataract;HP:0000518 37133451, 37055165 False 2 0;100;0 1.3 True ENSG00000138346 ENSG00000138346 HGNC:2939 DYNC1H1 gene DYNC1H1 Expert Review Amber;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563" Cataract;HP:0000518 27754416;27331017 False 2 0;100;0 1.3 True ENSG00000197102 ENSG00000197102 HGNC:2961 ESCO2 gene ESCO2 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Craniofacial abnormalities;Developmental Delay;Corneal opacities;Growth retardation;Limb abnormalities;Roberts syndrome 238300 Cataract;HP:0000518 19574259 False 2 0;100;0 1.3 True ENSG00000171320 ENSG00000171320 HGNC:27230 FKRP gene FKRP Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5 Cataract;HP:0000518 30461124;24139536;20236121;15833426 False 2 0;100;0 1.3 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Limb Girdle Muscular Dystrophy with No Mental Retardation;Congenital Cataract Cataract;HP:0000518 18177472;17878207 False 2 0;100;0 1.3 True ENSG00000106692 ENSG00000106692 HGNC:3622 GLS gene GLS Expert list;Expert Review Amber Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 Cataract;HP:0000518 30239721 False 2 0;100;0 1.3 True Other ENSG00000115419 ENSG00000115419 HGNC:4331 HPS1 gene HPS1 Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1 (203300) Cataract;HP:0000518 8719678;27058854 False 2 0;100;0 1.3 True ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4 (614073) Cataract;HP:0000518 8719678 False 2 0;100;0 1.3 True ENSG00000100099 ENSG00000100099 HGNC:15844 HPS6 gene HPS6 Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6 (614075) Cataract;HP:0000518 8719678 False 2 0;100;0 1.3 True ENSG00000166189 ENSG00000166189 HGNC:18817 IKBKG gene IKBKG Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti (308300);/ Ectodermal dysplasia and immunodeficiency 1 (300291);Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301);Immunodeficiency 33 (300636);Immunodeficiency, isolated (300584);Invasive pneumococcal disease, recurrent isolated 2 (300640) Cataract;HP:0000518 22564885;12975158;20499493;10893071 False 2 0;100;0 1.3 True ENSG00000073009 ENSG00000269335 HGNC:5961 ITPA gene ITPA Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 35, MIM# 616647 Cataract;HP:0000518 26224535;30816001 False 2 0;100;0 1.3 True ENSG00000125877 ENSG00000125877 HGNC:6176 LARGE1 gene LARGE1 Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154);Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840 Cataract;HP:0000518 17436019 False 2 0;100;0 1.3 True ENSG00000133424 ENSG00000133424 HGNC:6511 LCAT gene LCAT Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract;HP:0000518 False 2 0;0;100 1.3 True ENSG00000213398 ENSG00000213398 HGNC:6522 LEMD2 gene LEMD2 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract 46, juvenile-onset, OMIM# 212500 Cataract;HP:0000518 31061923;26788539;30905398;36377660 False 2 0;100;0 1.3 True ENSG00000161904 ENSG00000161904 HGNC:21244 LMX1B gene LMX1B Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome, MIM# 161200 Cataract;HP:0000518 False 2 0;100;0 1.3 True ENSG00000136944 ENSG00000136944 HGNC:6654 MAFA gene MAFA Expert Review Amber;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Insulinomatosis and diabetes mellitus, MIM# 147630" Cataract;HP:0000518 29339498 False 2 0;100;0 1.3 True ENSG00000182759 ENSG00000182759 HGNC:23145 MFRP gene MFRP Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Microphthalmia, isolated 5, MIM# 611040" Cataract;HP:0000518 36605040 False 2 0;100;0 1.3 True ENSG00000235718 ENSG00000235718 HGNC:18121 PANK4 gene PANK4 Expert Review Amber;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 49, MIM# 619593;Congenital posterior cataract Cataract;HP:0000518 30585370 False 2 0;100;0 1.3 True ENSG00000157881 ENSG00000157881 HGNC:19366 PGRMC1 gene PGRMC1 Expert Review Amber;Literature Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Isolated paediatric cataract Cataract;HP:0000518 33867527;23783460 False 2 0;100;0 1.3 True ENSG00000101856 ENSG00000101856 HGNC:16090 PIK3R1 gene PIK3R1 Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, MIM# 269880 Cataract;HP:0000518 False 2 0;100;0 1.3 True ENSG00000145675 ENSG00000145675 HGNC:8979 POMT1 gene POMT1 Expert Review Amber;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 2 0;100;0 1.3 True ENSG00000130714 ENSG00000130714 HGNC:9202 PSMC3 gene PSMC3 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Cataract;HP:0000518 32500975 False 2 0;100;0 1.3 True ENSG00000165916 ENSG00000165916 HGNC:9549 RIC1 gene RIC1 Expert list;Expert Review Amber Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "CATIFA syndrome, MIM# 618761" Cataract;HP:0000518 27878435;31932796 False 2 0;100;0 1.3 True ENSG00000107036 ENSG00000107036 HGNC:17686 RRAGA gene RRAGA Expert Review Amber;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract, MONDO:0005129, RRAGA-related Cataract;HP:0000518 27294265 False 2 0;100;0 1.3 True ENSG00000155876 ENSG00000155876 HGNC:16963 SEC23A gene SEC23A Expert Review Amber;Literature Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Craniolenticulosutural dysplasia, MIM# 607812" Cataract;HP:0000518 38275611;37828500;34580982 False 2 0;100;0 1.3 True ENSG00000100934 ENSG00000100934 HGNC:10701 SIPA1L3 gene SIPA1L3 Expert list;Expert Review Amber Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 45 MIM#616851 Cataract;HP:0000518 28951961;27993984;25804400 False 2 0;100;0 1.3 True ENSG00000105738 ENSG00000105738 HGNC:23801 SIX6 gene SIX6 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550" Cataract;HP:0000518 35693420 False 2 0;100;0 1.3 True ENSG00000184302 ENSG00000184302 HGNC:10892 TENM3 gene TENM3 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Microphthalmia, syndromic 15, MIM# 615145" Cataract;HP:0000518 36911040;32799327 False 2 0;100;0 1.3 True ENSG00000218336 ENSG00000218336 HGNC:29944 TKFC gene TKFC Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, MIM#618805;Developmental delay;cataracts;liver dysfunction Cataract;HP:0000518 32004446 False 2 0;100;0 1.3 True ENSG00000149476 ENSG00000149476 HGNC:24552 TMEM70 gene TMEM70 Expert list;Expert Review Amber Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052 Cataract;HP:0000518 21147908;23235116;27454254 False 2 0;100;0 1.3 True ENSG00000175606 ENSG00000175606 HGNC:26050 TRPM3 gene TRPM3 Expert list;Expert Review Amber Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract 50 with or without glaucoma, MIM#620253 Cataract;HP:0000518 25090642;33484482 False 2 0;100;0 1.3 True ENSG00000083067 ENSG00000083067 HGNC:17992 VCAN gene VCAN Expert Review Amber;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Wagner syndrome 1, MIM# 143200" Cataract;HP:0000518 36333947;29071374 False 2 0;100;0 1.3 True ENSG00000038427 ENSG00000038427 HGNC:2464 WDR59 gene WDR59 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254 Cataract;HP:0000518 41715954 False 2 0;100;0 1.3 True ENSG00000103091 ENSG00000103091 HGNC:25706 ZEB2 gene ZEB2 Expert Review Amber;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Mowat-Wilson syndrome, MIM# 235730" Cataract;HP:0000518 36676725;25899569 False 2 0;100;0 1.3 True ENSG00000169554 ENSG00000169554 HGNC:14881 ADA gene ADA Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Severe combined immunodeficiency due to ADA deficiency 102700" Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000196839 ENSG00000196839 HGNC:186 ADAM17 gene ADAM17 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory skin and bowel disease Cataract;HP:0000518 22010916;25804906;21041656;22236242 False 1 0;0;100 1.3 True ENSG00000151694 ENSG00000151694 HGNC:195 ADAMTSL4 gene ADAMTSL4 Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ectopia lentis;cataract Cataract;HP:0000518 22338190;20702823 False 1 0;0;100 1.3 True ENSG00000143382 ENSG00000143382 HGNC:19706 AICDA gene AICDA Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown "Immunodeficiency with hyper-IgM, type 2 605258" Cataract;HP:0000518 11007475;27789066;27142677;19575287 False 1 0;0;100 1.3 True ENSG00000111732 ENSG00000111732 HGNC:13203 AKR1E2 gene AKR1E2 Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract, MONDO:0005129, AKR1E2-related Cataract;HP:0000518 26622071;26622071 False 1 0;0;100 1.3 True ENSG00000165568 ENSG00000165568 HGNC:23437 ARL2 gene ARL2 Expert list;Expert Review Red Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082 Cataract;HP:0000518 30945270 False 1 0;0;100 1.3 True ENSG00000213465 ENSG00000213465 HGNC:693 BTK gene BTK Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked agammaglobulinemia;isolated growth hormone deficiency type III with agammaglobulinemia Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000010671 ENSG00000010671 HGNC:1133 CD3G gene CD3G Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Immunodeficiency 17, CD3 gamma deficient Cataract;HP:0000518 31921117 False 1 0;0;100 1.3 True ENSG00000160654 ENSG00000160654 HGNC:1675 CD40LG gene CD40LG Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency with Hyper-IgM type 1 Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000102245 ENSG00000102245 HGNC:11935 COL9A2 gene COL9A2 Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, MIM# 614284 Cataract;HP:0000518 PMID: 31090205;21671392;20686772;27666725;15802199;15710493 False 1 50;0;50 1.3 True ENSG00000049089 ENSG00000049089 HGNC:2218 CRYGA gene CRYGA Expert Review Red;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract;HP:0000518 30450742;28839118 False 1 0;0;100 1.3 True ENSG00000168582 ENSG00000168582 HGNC:2408 CYBA gene CYBA Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chronic granulomatous disease;immunodeficiency 34 with mycobacteriosis Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000165168 ENSG00000165168 HGNC:2578 DCLRE1C gene DCLRE1C Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Omenn syndrome 603554;Severe combined immunodeficiency, Athabascan type 602450 Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000152457 ENSG00000152457 HGNC:17642 DOCK8 gene DOCK8 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome 243700 Cataract;HP:0000518 18060736 False 1 0;0;100 1.3 True ENSG00000107099 ENSG00000107099 HGNC:19191 DYRK1A gene DYRK1A Expert Review Red;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital cataracts Cataract;HP:0000518 28053047;25944381 False 1 0;0;100 1.3 True ENSG00000157540 ENSG00000157540 HGNC:3091 EED gene EED Expert Review Red;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cohen-Gibson syndrome Cataract;HP:0000518 25787343 False 1 0;100;0 1.3 True ENSG00000074266 ENSG00000074266 HGNC:3188 EPCAM gene EPCAM Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital diarrhoea 5 with tufting enteropathy;Lynch syndrome Cataract;HP:0000518 30461124 False 1 0;0;100 1.3 True ENSG00000119888 ENSG00000119888 HGNC:11529 EXD3 gene EXD3 Expert Review Red;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract, MONDO:0005129, EXD3-related Cataract;HP:0000518 37396523 False 1 0;0;100 1.3 True ENSG00000187609 ENSG00000187609 HGNC:26023 FOXP3 gene FOXP3 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000049768 ENSG00000049768 HGNC:6106 GBF1 gene GBF1 Expert Review Red;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant cataract MONDO:0022672, GBF1-related Cataract;HP:0000518 39110251 False 1 0;0;100 1.3 True ENSG00000107862 ENSG00000107862 HGNC:4181 GJA1 gene GJA1 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculodentodigital dysplasia, autosomal recessive, MIM# 257850 Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000152661 ENSG00000152661 HGNC:4274 GUCY2C gene GUCY2C Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Diarrhea 6, 614616;Meconium ileus, 614665 Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000070019 ENSG00000070019 HGNC:4688 ICOS gene ICOS Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Common variable immunodeficiency 1 (604558) Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000163600 ENSG00000163600 HGNC:5351 IL10 gene IL10 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000136634 ENSG00000136634 HGNC:5962 IL10RA gene IL10RA Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 28, early onset (613148) Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 25, early onset (612567) Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000243646 ENSG00000243646 HGNC:5965 IL2RG gene IL2RG Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Severe combined immunodeficiency, X-linked (300400);Moderate combined immunodeficiency, X-linked (312863) Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000147168 ENSG00000147168 HGNC:6010 ITGB2 gene ITGB2 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency (MIM# 116920) Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000160255 ENSG00000160255 HGNC:6155 KAT2B gene KAT2B Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal cataract MONDO:0005129, KAT2B-related Cataract;HP:0000518 39366742 False 1 0;0;100 1.3 True ENSG00000114166 ENSG00000114166 HGNC:8638 LIG4 gene LIG4 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000174405 ENSG00000174405 HGNC:6601 LRBA gene LRBA Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000198589 ENSG00000198589 HGNC:1742 NCF1 gene NCF1 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700 Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000158517 ENSG00000158517 HGNC:7660 NCF2 gene NCF2 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000116701 ENSG00000116701 HGNC:7661 NCF4 gene NCF4 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000100365 ENSG00000100365 HGNC:7662 NSUN2 gene NSUN2 Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 5, MIM# 611091;Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features Cataract;HP:0000518 33084202 False 1 0;50;50 1.3 True ENSG00000037474 ENSG00000037474 HGNC:25994 PLCG2 gene PLCG2 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000197943 ENSG00000197943 HGNC:9066 RAG2 gene RAG2 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000175097 ENSG00000175097 HGNC:9832 RET gene RET Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000165731 ENSG00000165731 HGNC:9967 RGS6 gene RGS6 Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RGS6-related Cataract;HP:0000518 38332109;25525169 False 1 0;0;100 1.3 True ENSG00000182732 ENSG00000182732 HGNC:10002 RNH1 gene RNH1 Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RNH1-related Cataract;HP:0000518 PMID: 36935417 False 1 0;50;50 1.3 True ENSG00000023191 ENSG00000023191 HGNC:10074 SEC24C gene SEC24C Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, SEC24C-related Cataract;HP:0000518 40131364 False 1 0;0;100 1.3 True ENSG00000176986 ENSG00000176986 HGNC:10705 SH2D1A gene SH2D1A Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000183918 ENSG00000183918 HGNC:10820 SKIV2L gene SKIV2L Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC37A4 gene SLC37A4 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLC7A8 gene SLC7A8 Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cataract, MONDO:0005129, SLC7A8-related Cataract;HP:0000518 40229141;31231240 False 1 0;0;100 1.3 True ENSG00000092068 ENSG00000092068 HGNC:11066 SPAG9 gene SPAG9 Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, SPAG9-related Cataract;HP:0000518 39846792 False 1 0;0;100 1.3 True ENSG00000008294 ENSG00000008294 HGNC:14524 STXBP2 gene STXBP2 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 5 MIM#613101 Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000076944 ENSG00000076944 HGNC:11445 TAPT1 gene TAPT1 Expert Review Red;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Cataract;HP:0000518 36697720;36652330 False 1 0;0;100 1.3 True ENSG00000169762 ENSG00000169762 HGNC:26887 TTC37 gene TTC37 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000198677 ENSG00000198677 HGNC:23639 UBE2U gene UBE2U Expert Review Red;Literature Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoschisis;cataracts;learning disabilities;developmental delay Cataract;HP:0000518 PMID: 33776059 False 1 0;0;100 1.3 True ENSG00000177414 ENSG00000177414 HGNC:28559 WAS gene WAS Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000015285 ENSG00000015285 HGNC:12731 XIAP gene XIAP Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000101966 ENSG00000101966 HGNC:592 ZAP70 gene ZAP70 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 1.3 True ENSG00000115085 ENSG00000115085 HGNC:12858 CNBP_DM2_CCTG str CNBP Expert Review Green;Expert list;Expert list Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 2 MIM#602668 Cataract;HP:0000518 20301639;11486088;37123986;34024776;29086017;28491317 False 3 100;0;0 1.3 True ENSG00000169714 ENSG00000169714 HGNC:13164 3 128891420 128891499 129172577 129172656 CCTG 26 75 DMPK_DM1_CTG str DMPK Expert Review Green;Expert list;Expert list Cataract Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1 MIM#160900 Cataract;HP:0000518 20301344;29325606 False 3 100;0;0 1.3 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 34 50