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 ADAMTSL4 gene ADAMTSL4 Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ectopia lentis, isolated, autosomal recessive;Ectopia lentis et pupillae Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633;Neuhann (2015) Am J Hum genet 167A:2376-2381 False 1 0;50;50 7.11 True ENSG00000143382 ENSG00000143382 HGNC:19706 ADD3 gene ADD3 Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal cataract, MONDO:0005129;Cataract, HP:0000518 29768408 False 1 0;0;100 7.11 False ENSG00000148700 ENSG00000148700 HGNC:245 AKR1E2 gene AKR1E2 Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology Unknown glycogen-derived 1, 5-anhydro-D-fructose accumulation, osmotic cataract Aldahmesh (2012) Genet Med 14(12):955-962, PMID: 22935719 False 1 0;50;50 7.11 True ENSG00000165568 ENSG00000165568 HGNC:23437 AP4B1 gene AP4B1 Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal AP-4 deficiency syndrome and ocular anomalies 29430868 False 1 0;0;100 7.11 False ENSG00000134262 ENSG00000134262 HGNC:572 B3GALNT2 gene B3GALNT2 Expert Review Red;Other Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 False 1 0;0;0 7.11 True ENSG00000162885 ENSG00000162885 HGNC:28596 B4GAT1 gene B4GAT1 Expert Review Red;Other Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 False 1 0;0;0 7.11 True ENSG00000174684 ENSG00000174684 HGNC:15685 BEST1 gene BEST1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) -dditional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber. ;Best macular dystrophy, 153700Maculopathy, bull's-eyeVitelliform macular dystrophy, adult-onset, 608161Bestrophinopathy, 611809Vitreoretinochoroidopathy, 193220Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1 False 1 0;0;100 7.11 True ENSG00000167995 ENSG00000167995 HGNC:12703 BUB1B gene BUB1B Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy False 1 0;50;50 7.11 True ENSG00000156970 ENSG00000156970 HGNC:1149 CAPN15 gene CAPN15 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology False 1 0;0;100 7.11 True ENSG00000103326 ENSG00000103326 HGNC:11182 CBS gene CBS Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Homocystinuria, AR;Homocystinuria B6-responsive and nonresponsive types;confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Many on HGMD False 1 50;50;0 7.11 True ENSG00000160200 ENSG00000160200 HGNC:1550 CDKN2A gene CDKN2A Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology False 1 0;0;100 7.11 True ENSG00000147889 ENSG00000147889 HGNC:1787 COL6A3 gene COL6A3 Expert Review Red;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peters anomaly 33304895 False 1 0;100;0 7.11 False ENSG00000163359 ENSG00000163359 HGNC:2213 CRYGA gene CRYGA Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology False 1 0;0;100 7.11 True ENSG00000168582 ENSG00000168582 HGNC:2408 CRYGB gene CRYGB Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cataract 39, multiple types, autosomal dominant, 615188 Alfadhli et al (2012) Mol. Vis. 18: 2931-2936;Mouse mutation: Li et al (2008) Invest. Ophthal. Vis. Sci. 49: 304-309;PMID: 21941057 - a SNP associated with susceptibility to cataract. False 1 0;50;50 7.11 True ENSG00000182187 ENSG00000182187 HGNC:2409 CRYGFP gene CRYGFP Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology False 1 0;0;100 7.11 True ENSG00000232799 ENSG00000232799 HGNC:2413 DAG1 gene DAG1 Expert Review Red;Other Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 False 1 0;0;0 7.11 True ENSG00000173402 ENSG00000173402 HGNC:2666 EED gene EED Expert Review Red;Literature Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cohen-Gibson syndrome, OMIM:617561,MONDO:0060510 25787343; 27193220; 27868325; 28229514 False 1 33;0;67 7.11 False ENSG00000074266 ENSG00000074266 HGNC:3188 ESCO2 gene ESCO2 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Vega et al (2010) J. Med. Genet. 47: 30-37;Roberts syndrome 238300 Vega et al (2010) J. Med. Genet. 47: 30-37. False 1 0;50;50 7.11 True ENSG00000171320 ENSG00000171320 HGNC:27230 EYA1 gene EYA1 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology Branchiootorenal syndrome 1, with or without cataracts, 113650;Anterior segment anomalies with or without cataract, 113650;Branchiootic syndrome 1, 602588;Otofaciocervical syndrome, 166780 False 1 0;100;0 7.11 True ENSG00000104313 ENSG00000104313 HGNC:3519 FBN1 gene FBN1 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown congenital ectopia lentis;Marfan syndrome;Weill-Marchesani syndrome Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633;Li et al (2004) Mol Vis 20:1017 False 1 67;0;33 7.11 True ENSG00000166147 ENSG00000166147 HGNC:3603 FKRP gene FKRP Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A5 Chiara Manzini et al (2008) Hum Mutat 29:E231-E241;van Reeuwijk et al (2010) Clin genet 78:275-281 False 1 100;0;0 7.11 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4 Saito et al (2010) Am J Med Genet 92:184-190;Cotarelo et al (2008) Clin Genet 73:139-145 False 1 100;0;0 7.11 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLNB gene FLNB Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Steiner et al (2000) Am J Med Genet 91:131-134 False 1 0;50;50 7.11 True ENSG00000136068 ENSG00000136068 HGNC:3755 FOXC1 gene FOXC1 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Axenfeld-Rieger syndrome type 3 Many for Axenfield-Rieger syndrome, Peters anomaly False 1 0;100;0 7.11 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXD3 gene FOXD3 Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology Unknown Anterior segment dysgenesis, Peter s anomaly Kloss et al (2012) Mol Vis 18:1740-9 False 1 0;0;100 7.11 True ENSG00000187140 ENSG00000187140 HGNC:3804 FZD4 gene FZD4 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;50;50 7.11 True ENSG00000174804 ENSG00000174804 HGNC:4042 GJA1 gene GJA1 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, OMIM:164200;Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 Paznekas et al (2009) Hum Mutat30:724-733 False 1 50;0;50 7.11 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJC3 gene GJC3 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology False 1 0;0;100 7.11 True ENSG00000176402 ENSG00000176402 HGNC:17495 GJE1 gene GJE1 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology False 1 0;0;100 7.11 True ENSG00000203733 ENSG00000203733 HGNC:33251 GMPPB gene GMPPB Expert Review Red;Other Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 False 1 0;0;0 7.11 True ENSG00000173540 ENSG00000173540 HGNC:22932 HCCS gene HCCS Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Is a confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 7;Linear skin defects with multiple congenital anomalies 1, 309801 van Rahden et al (2014) Orphanet J Rare Dis 9:53;Wimplinger et al (2006) Am J Hum Genet 79:878. False 1 0;50;50 7.11 True ENSG00000004961 ENSG00000004961 HGNC:4837 ISPD gene ISPD Expert Review Red;Other Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 False 1 0;0;0 7.11 True ENSG00000214960 ENSG00000214960 HGNC:37276 KAT2B gene KAT2B Expert Review Red;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal cataract, MONDO:0005129;Cataract, HP:0000518 39366742;29768408 False 1 0;100;0 7.11 False ENSG00000114166 ENSG00000114166 HGNC:8638 KIAA1109 gene KIAA1109 Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome, 617822;Brain atrophy, Dandy Walker and Contractures 29290337;30906834 False 1 100;0;0 7.11 False ENSG00000138688 ENSG00000138688 HGNC:26953 LARGE1 gene LARGE1 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A6 van Reeuwijk et al (2007) Hum Genet 121:685-690;Meilleur et al (2014) J Neuropathol Exp Neurol 73:425-441 False 1 50;50;0 7.11 True ENSG00000133424 ENSG00000133424 HGNC:6511 LCT gene LCT Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology Congenital lactase deficiency False 1 0;0;100 7.11 True ENSG00000115850 ENSG00000115850 HGNC:6530 LMX1B gene LMX1B Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Confirmed DD gene for Nail-patella syndrome Bongers et al (2005) Eur j Hum Genet 13:935-946 False 1 50;0;50 7.11 True ENSG00000136944 ENSG00000136944 HGNC:6654 LRP5 gene LRP5 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Osteoporosis-pseudoglioma syndrome;Exudative vitreoretinopathy 4 False 1 50;0;50 7.11 True ENSG00000162337 ENSG00000162337 HGNC:6697 LTBP2 gene LTBP2 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal False 1 0;50;50 7.11 True ENSG00000119681 ENSG00000119681 HGNC:6715 LTBP3 gene LTBP3 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology Confirmed DD gene for PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA False 1 0;0;100 7.11 True ENSG00000168056 ENSG00000168056 HGNC:6716 MAFIP gene MAFIP Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology False 1 0;0;100 7.11 True - - HGNC:31102 MAN2A1 gene MAN2A1 Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology Unknown Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA False 1 0;0;100 7.11 True ENSG00000112893 ENSG00000112893 HGNC:6824 MFSD6L gene MFSD6L Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology Unknown Neuronal ceroid lipofucinosis Aldahmesh (2012) Genet Med 14(12):955-962 False 1 0;0;100 7.11 True ENSG00000185156 ENSG00000185156 HGNC:26656 MIPEP gene MIPEP Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology False 1 0;0;100 7.11 True ENSG00000027001 ENSG00000027001 HGNC:7104 MMP1 gene MMP1 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of} False 1 0;0;100 7.11 True ENSG00000196611 ENSG00000196611 HGNC:7155 NECTIN3 gene NECTIN3 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology Lachke et al (2012) Hum Genet 131:235-250 False 1 0;100;0 7.11 False ENSG00000177707 ENSG00000177707 HGNC:17664 NSUN2 gene NSUN2 Expert Review Red;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 5, OMIM:611091;cataracts 33084202 False 1 0;0;100 7.11 False ENSG00000037474 ENSG00000037474 HGNC:25994 OTX2 gene OTX2 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown confirmed DD gene for MICROPHTHALMIA SYNDROMIC TYPE 5 False 1 0;50;50 7.11 True ENSG00000165588 ENSG00000165588 HGNC:8522 PEX5L gene PEX5L Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology Unknown Peroxisome biogenesis disorder False 1 0;0;100 7.11 False ENSG00000114757 ENSG00000114757 HGNC:30024 PISD gene PISD Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Liberfarb syndrome, 618889 31263216;30858161;30488656;3561949 False 1 100;0;0 7.11 False ENSG00000241878 ENSG00000241878 HGNC:8999 PITX2 gene PITX2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataracts False 1 0;100;0 7.11 True ENSG00000164093 ENSG00000164093 HGNC:9005 POMGNT1 gene POMGNT1 Expert Review Red;Other Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 False 1 0;0;0 7.11 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Red;Other Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 False 1 0;0;0 7.11 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Red;Other Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 False 1 0;0;0 7.11 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1;muscular dystrophy-dystroglycanopathy (MDDG) Chiara Manzini et al (2008) Hum Mutat 29:E231-E241 False 1 100;0;0 7.11 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A2;muscular dystrophy-dystroglycanopathy (MDDG) Godfrey et al (2007) Brain 130:2725-35;Chiara Manzini et al (2008) Hum Mutat 29:E231-E241 False 1 100;0;0 7.11 True ENSG00000009830 ENSG00000009830 HGNC:19743 PRX gene PRX Literature Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital cataract 27081207 False 1 0;0;100 7.11 False ENSG00000105227 ENSG00000105227 HGNC:13797 PTBP1 gene PTBP1 Other Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092;STAD syndrome, OMIM:621495 40965981 False 1 0;0;100 7.11 False ENSG00000011304 ENSG00000011304 HGNC:9583 PTCH1 gene PTCH1 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome 1, OMIM:109400 Chassaing et al (2016) Genome Res. 26: 474-485 False 1 0;50;50 7.11 True ENSG00000185920 ENSG00000185920 HGNC:9585 RECQL4 gene RECQL4 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 2, OMIM:268400 Wang et al (2001) Am J Med Genet 102:11-17;Wang et al (2003) J. Nat. Cancer Inst. 95: 669-674 False 1 0;67;33 7.11 True ENSG00000160957 ENSG00000160957 HGNC:9949 RNLS gene RNLS Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital cataract, autosomal recessive 22935719 False 1 0;0;100 7.11 True ENSG00000184719 ENSG00000184719 HGNC:25641 RNPC3 gene RNPC3 Expert Review;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal isolated growth hormone deficiency;?Growth hormone deficiency, isolated, type V, 618160;congenital cataracts 24480542;29866761;32462814 False 1 0;0;100 7.11 False ENSG00000185946 ENSG00000185946 HGNC:18666 SEC23A gene SEC23A Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Craniolenticulosutural dysplasia;Cranio-lenticulo-sutural dysplasia PMID: 21039434;16980979;Boyadjiev et al (2006) Nature Genet. 38: 1192-1197;Boyadjiev et al (2011) Clin. Genet. 80: 169-176. False 1 0;100;0 7.11 True ENSG00000100934 ENSG00000100934 HGNC:10701 SIX3 gene SIX3 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology Holoprosencephaly-2;Schizencephaly False 1 0;0;100 7.11 True ENSG00000138083 ENSG00000138083 HGNC:10889 SIX5 gene SIX5 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 2, OMIM:610896 False 1 0;50;50 7.11 True ENSG00000177045 ENSG00000177045 HGNC:10891 SIX6 gene SIX6 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology Microphthalmia with cataract 2, 212550 False 1 0;0;100 7.11 True ENSG00000184302 ENSG00000184302 HGNC:10892 SOX2 gene SOX2 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;50;50 7.11 True ENSG00000181449 ENSG00000181449 HGNC:11195 SREBF2 gene SREBF2 Expert Review Red;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology False 1 0;50;50 7.11 True ENSG00000198911 ENSG00000198911 HGNC:11290 TAF1A gene TAF1A Expert Review Red;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital cataract and global developmental delay 27878435;37501913;28472305;29367541 False 1 0;0;100 7.11 False ENSG00000143498 ENSG00000143498 HGNC:11532 TAPT1 gene TAPT1 Expert Review Red;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Pediatric posterior lenticonus cataract 27878435 False 1 0;100;0 7.11 False ENSG00000169762 ENSG00000169762 HGNC:26887 TCF4 gene TCF4 Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown paediatric cataracts https://doi.org/10.3390/genes12121918 False 1 33;33;33 7.11 False ENSG00000196628 ENSG00000196628 HGNC:11634 TMEM114 gene TMEM114 Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract and microphthalmia "PMID: 17492639 Jamieson et al (2007) Hum Mutat 28:968-977 - original report of a balanced translocation which involved the TMEM114 gene associated with congenital/juvenile cataracts in a family pedigree. They also report identifying heterozygous missense variants in several other cases, however these were found in healthy sibling and mother: ""The I35T and F106L variants were in conserved amino acids in the first predicted protein loop outside the membrane (Fig. 3A and B). These mutations were absent in 200 normal control chromosomes as well as 129 other congenital cataract patients. Nevertheless, these mutations were also detected in a heterozygous state in the DNA from the patients apparently healthy sibling and mother, respectively. One sequence variant, c.440C4T, p.A147V, was a polymorphism, which was found three times in the cohort and was not present in all affected individuals in a familial case."";PMID: 24357539 Gai et al, (2014) - report a deletion of the TMEM114 gene in a boy and father without cataracts, and summarise further database entries of deletions which have also not reported a cataract phenotype. They highlight that either non-penetrance, or other factors are causal in the previous published report that associated variants in this gene with cataract." False 1 0;50;50 7.11 True ENSG00000232258 ENSG00000232258 HGNC:33227 TMEM5 gene TMEM5 Expert Review Red;Other Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 False 1 0;0;0 7.11 True ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM70 gene TMEM70 Expert list;Expert Review Red Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Atay et al (2013) Gene 515:197-9 (PMID: 23235116);Spiegel et al(2011) J. Med. Genet. 48: 177-182 (PMID: 21147908) False 1 0;100;0 7.11 True ENSG00000175606 ENSG00000175606 HGNC:26050 UBE2U gene UBE2U Expert Review Red;Literature Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoschisis, MONDO:0004579;cataracts;learning disability, MONDO:0004681;developmental delay 33776059 False 1 0;0;100 7.11 False ENSG00000177414 ENSG00000177414 HGNC:28559