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 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 True ENSG00000119888 ENSG00000119888 HGNC:11529 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 True ENSG00000114166 ENSG00000114166 HGNC:8638 LIG4 gene LIG4 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 0.373 False ENSG00000174405 ENSG00000174405 HGNC:6601 LRBA gene LRBA Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 0.373 False ENSG00000198589 ENSG00000198589 HGNC:1742 NCF1 gene NCF1 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 0.373 False 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 True ENSG00000175097 ENSG00000175097 HGNC:9832 RET gene RET Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 0.373 False 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 0.373 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 0.373 True ENSG00000023191 ENSG00000023191 HGNC:10074 SH2D1A gene SH2D1A Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 0.373 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 0.373 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 0.373 True ENSG00000137700 ENSG00000137700 HGNC:4061 STXBP2 gene STXBP2 Expert Review Red;Victorian Clinical Genetics Services Cataract Ophthalmological disorders Unknown Cataract;HP:0000518 False 1 0;0;100 0.373 False 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 True ENSG00000115085 ENSG00000115085 HGNC:12858