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 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