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 0.373 True ENSG00000148700 ENSG00000148700 HGNC:245 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 0.373 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 0.373 True ENSG00000112280 ENSG00000112280 HGNC:2217 COPB1 gene COPB1 Expert Review Amber;Literature Cataract Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Baralle-Macken syndrome, MIM# 619255;Severe intellectual disability;variable microcephaly;cataracts" Cataract;HP:0000518 33632302 False 2 0;100;0 0.373 True ENSG00000129083 ENSG00000129083 HGNC:2231 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 0.373 True ENSG00000138346 ENSG00000138346 HGNC:2939 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 mental retardation), type B, 6 (MIM# 608840) Cataract;HP:0000518 17436019 False 2 0;100;0 0.373 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 0.373 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 0.373 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 0.373 True ENSG00000136944 ENSG00000136944 HGNC:6654 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 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 0.373 True ENSG00000107036 ENSG00000107036 HGNC:17686 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 0.373 True ENSG00000105738 ENSG00000105738 HGNC:23801 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 0.373 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 0.373 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 0.373 True ENSG00000083067 ENSG00000083067 HGNC:17992