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;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674;PHARC syndrome, MONDO:0012984 32077159;29571850;28448692;24697911 False 3 33;33;33 7.10 True ENSG00000100997 ENSG00000100997 HGNC:15868 ADAMTS10 gene ADAMTS10 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome Steinkeller et al (2015) Eur J Hum Genet 23:1186-1191;Dagoneau et al (2004) Am J Hum Genet 75:801-806;Li et al (2004) Mol Vis 20:1017;PMID: 25469541;15368195 False 3 0;100;0 7.10 True ENSG00000142303 ENSG00000142303 HGNC:13201 AGK gene AGK Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital Cataract;Sengers syndrome, 212350 Aldahmesh et al (2012) Hum. Mutat. 33: 960-962;Mayr et al (2012) Am. J. Hum. Genet. 90: 314-320 False 3 100;0;0 7.10 True ENSG00000006530 ENSG00000006530 HGNC:21869 AGPS gene AGPS Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata type 3;rhizomelic chondrodysplasia punctata type 3 (RCDP3) de Vet et al (1998) J. Biol. Chem. 273: 10296-10301;Itzkovitz et al (2011) Hum Mutat 33:189-197 False 3 100;0;0 7.10 True ENSG00000018510 ENSG00000018510 HGNC:327 ALDH18A1 gene ALDH18A1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal dominant 3 OMIM:616603;cutis laxa, autosomal dominant 3 MONDO:0014706;Cutis laxa, autosomal recessive, type IIIA OMIM:219150;ALDH18A1-related de Barsy syndrome MONDO:0009053;Spastic paraplegia 9A, autosomal dominant OMIM:601162;hereditary spastic paraplegia 9A MONDO:0011006;Spastic paraplegia 9B, autosomal recessive OMIM:616586;autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 False 3 100;0;0 7.10 True ENSG00000059573 ENSG00000059573 HGNC:9722 ANAPC1 gene ANAPC1 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 31303264 False 3 100;0;0 7.10 False ENSG00000153107 ENSG00000153107 HGNC:19988 ATAD3A gene ATAD3A Expert Review Green;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183 27640307;28652416;28158749;31727539 False 3 0;100;0 7.10 False ENSG00000197785 ENSG00000197785 HGNC:25567 B3GLCT gene B3GLCT Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome False 3 100;0;0 7.10 True ENSG00000187676 ENSG00000187676 HGNC:20207 BCOR gene BCOR Expert Review Green;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) Microphthalmia syndromic 2;Microphthalmia syndromic type 2;syndromic microphthalmia-2, 300166 False 3 100;0;0 7.10 True ENSG00000183337 ENSG00000183337 HGNC:20893 BFSP1 gene BFSP1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 33, 611391 Wang et al (2013) Mol Vis 19:2590-2595;Ramachandran et al (2007) Hum Genet 121(3-4):475-82;Alizadeh et al (2003) Invest Ophthalmol Vis Sci 43:3722-7 False 3 50;50;0 7.10 True ENSG00000125864 ENSG00000125864 HGNC:1040 BFSP2 gene BFSP2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataracts;Cataract 12, multiple types, 611597 False 3 100;0;0 7.10 True ENSG00000170819 ENSG00000170819 HGNC:1041 CDK9 gene CDK9 Expert Review Green;Literature;NHS GMS Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Abnormality of vision;Congenital cataract;Iris coloboma;Abnormal heart morphology;Choanal atresia;Abnormality of the ear;Preauricular skin tag;Hearing impairment;Abnormality of the genitourinary system;Abnormality of limbs;Abnormality of the vertebrae;Abnormality of nervous system morphology;Seizures 26633546;30237576;29302074;33640901 False 3 100;0;0 7.10 False ENSG00000136807 ENSG00000136807 HGNC:1780 CHMP4B gene CHMP4B Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 31, multiple types, 605387 False 3 100;0;0 7.10 True ENSG00000101421 ENSG00000101421 HGNC:16171 COG4 gene COG4 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Saul-Wilson syndrome, OMIM:618150;microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 31949312;30290151 False 3 100;0;0 7.10 False Other ENSG00000103051 ENSG00000103051 HGNC:18620 COL11A1 gene COL11A1 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Marshall Syndrome, OMIM:154780;Stickler syndrome, type II, OMIM:604841 False 3 100;0;0 7.10 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL18A1 gene COL18A1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, OMIM:267750 30007336;19160445;18484314;12415512 False 3 33;67;0 7.10 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL2A1 gene COL2A1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Confirmed DD gene for Stickler syndrome type I non-syndromic ocular;Stickler syndrome Richards et al (2006) Hm Mutat 27:694-704;McAlinden et al (2008) Hum Mutat 29:83-90 False 3 100;0;0 7.10 True ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A1 gene COL4A1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain small vessel disease with or without ocular anomalies;complex ocular phenotypes involving microphthalmia;Congenital cataracts Shah et al (2012) Dev Med Child Neurol 54:569-574;Deml et al (2014) Clin Genet 86:475-481 False 3 50;50;0 7.10 True ENSG00000187498 ENSG00000187498 HGNC:2202 CRYAA gene CRYAA Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Cataract;Cataract 9, multiple types, 604219;CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1;CATARACT, NUCLEAR False 3 100;0;0 7.10 True ENSG00000160202 ENSG00000160202 HGNC:2388 CRYAB gene CRYAB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 16, multiple types, OMIM:613763;Myopathy, myofibrillar, 2, OMIM:608810 False 3 100;0;0 7.10 True ENSG00000109846 ENSG00000109846 HGNC:2389 CRYBA1 gene CRYBA1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 10, multiple types, 600881;cataract congenital zonular with sutural opacities;Cataract 10, multiple types False 3 100;0;0 7.10 True ENSG00000108255 ENSG00000108255 HGNC:2394 CRYBA4 gene CRYBA4 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 23, 610425 False 3 100;0;0 7.10 True ENSG00000196431 ENSG00000196431 HGNC:2396 CRYBB1 gene CRYBB1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Nuclear Cataract;Cataract 17, multiple types, 611544 False 3 100;0;0 7.10 True ENSG00000100122 ENSG00000100122 HGNC:2397 CRYBB2 gene CRYBB2 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 3, multiple types, 601547;cataract, coppock-like and cataract;congenital cerulean type 2;Cataract 3, multiple types False 3 100;0;0 7.10 True ENSG00000244752 ENSG00000244752 HGNC:2398 CRYBB3 gene CRYBB3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 22, OMIM:609741 False 3 100;0;0 7.10 True ENSG00000100053 ENSG00000100053 HGNC:2400 CRYGC gene CRYGC Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 2, multiple types, 604307;cataract autosomal dominant;cataract coppock-like;Cataract 2, multiple types False 3 100;0;0 7.10 False ENSG00000163254 ENSG00000163254 HGNC:2410 CRYGD gene CRYGD Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataracts;Cataract 4, multiple types, 115700;CATARACT CONGENITAL CERULEAN TYPE 3;CATARACT AUTOSOMAL DOMINANT False 3 100;0;0 7.10 True ENSG00000118231 ENSG00000118231 HGNC:2411 CRYGS gene CRYGS Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 20, multiple types, 116100 Sun et al (2005) J Med Genet 42:706-710;Vanita et al (2009) Mol Vis 15:476-481;Devi et al (2008) Mol Vis 14:1157-1170 False 3 50;50;0 7.10 True ENSG00000213139 ENSG00000213139 HGNC:2417 CYP27A1 gene CYP27A1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 Gallus et al (2010) Eur J Neurol 17:1259-1262;Garuti et al (1997) J Lipid Res 38:2322-2334 False 3 50;50;0 7.10 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP51A1 gene CYP51A1 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive cataract due to abnormal sterol metabolism 22935719;25148791;27878435 False 3 50;0;50 7.10 True ENSG00000001630 ENSG00000001630 HGNC:2649 DHCR7 gene DHCR7 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome False 3 100;0;0 7.10 True ENSG00000172893 ENSG00000172893 HGNC:2860 DNMBP gene DNMBP Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cataract 48, 618415 30290152 False 3 100;0;0 7.10 False ENSG00000107554 ENSG00000107554 HGNC:30373 EIF2B2 gene EIF2B2 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 28041799;21484434;14566705 False 3 100;0;0 7.10 False ENSG00000119718 ENSG00000119718 HGNC:3258 EPHA2 gene EPHA2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 6, multiple types, OMIM:116600 33671840;35918037 False 3 100;0;0 7.10 True ENSG00000142627 ENSG00000142627 HGNC:3386 ERCC2 gene ERCC2 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy;CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2;TRICHOTHIODYSTROPHY PHOTOSENSITIVE False 3 100;0;0 7.10 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy False 3 100;0;0 7.10 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC6 gene ERCC6 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome type B;UV-sensitivesyndrome 1;Cerebrooculofacioskeletalsyndrome 1 False 3 100;0;0 7.10 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome type A MIMID;UV-sensitive syndrome 2;confirmed DD gene for Cockayne Syndrome Type A False 3 100;0;0 7.10 True ENSG00000049167 ENSG00000049167 HGNC:3439 FAM126A gene FAM126A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hypomyelination and Congenital Cataract;Leukodystrophy hypomyelinating 5;Leukodystrophy hypomyelinating type 5 False 3 100;0;0 7.10 True ENSG00000122591 ENSG00000122591 HGNC:24587 FAR1 gene FAR1 Expert Review Green;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 25439727;30561787;33239752 False 3 100;0;0 7.10 False ENSG00000197601 ENSG00000197601 HGNC:26222 FOSL2 gene FOSL2 Expert Review Green;Literature;NHS GMS Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 36197437 False 3 100;0;0 7.10 False ENSG00000075426 ENSG00000075426 HGNC:3798 FOXE3 gene FOXE3 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 34, multiple types, OMIM:612968;cataract 34 multiple types, MONDO:0013067;Peter's anomaly;microphthalmia. 19708017;11159941;20806047 False 3 50;50;0 7.10 True ENSG00000186790 ENSG00000186790 HGNC:3808 FTL gene FTL Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperferritinemia-cataract syndrome, 600886;Hyperferritinemia Cataract Syndrome;HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME False 3 100;0;0 7.10 True ENSG00000087086 ENSG00000087086 HGNC:3999 FYCO1 gene FYCO1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital Cataract;Cataract 18, autosomal recessive, 610019;Cataract 18, autosomal recessive;CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 False 3 100;0;0 7.10 True ENSG00000163820 ENSG00000163820 HGNC:14673 GALK1 gene GALK1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, 230200;Galactokinase deficiency with cataracts;galactosemia II False 3 100;0;0 7.10 True ENSG00000108479 ENSG00000108479 HGNC:4118 GALT gene GALT Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Galactosemia, OMIM:230400 False 3 100;0;0 7.10 True ENSG00000213930 ENSG00000213930 HGNC:4135 GCNT2 gene GCNT2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Adult i Blood Group With or Without Congenital Cataract;[Blood group, Ii], 110800 Yu et al (2001) Blood 98:3840-3845;Pras et al (2004) Invest Ophthalmol 45:1940-5 False 3 50;50;0 7.10 True ENSG00000111846 ENSG00000111846 HGNC:4204 GEMIN4 gene GEMIN4 Expert Review Green;Literature;NHS GMS Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913 27878435;25558065;30237576;35052432;35861185 False 3 50;50;0 7.10 False ENSG00000179409 ENSG00000179409 HGNC:15717 GFER gene GFER Expert Review Green;Radboud University Medical Center, Nijmegen Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076 19409522;25269795;28155230 False 3 33;33;33 7.10 True ENSG00000127554 ENSG00000127554 HGNC:4236 GJA3 gene GJA3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Zonular Pulverulent Cataract;Cataract 14, multiple types, 601885;CATARACT ZONULAR PULVERULENT CATARACT TYPE 3;Cataract 14, multiple types False 3 100;0;0 7.10 True ENSG00000121743 ENSG00000121743 HGNC:4277 GJA8 gene GJA8 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract-Microcornea Syndrome;Cataract 1, multiple types, 116200;CATARACT-MICROCORNEA SYNDROME;CATARACT ZONULAR PULVERULENT TYPE 1;Cataract 1, multiple types False 3 100;0;0 7.10 True ENSG00000121634 ENSG00000121634 HGNC:4281 GNPAT gene GNPAT Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2;rhizomelic chondrodysplasia punctata type 2 (RCDP2) False 3 100;0;0 7.10 True ENSG00000116906 ENSG00000116906 HGNC:4416 GTF2H5 gene GTF2H5 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive, 616395 24986372;15220921 False 3 100;0;0 7.10 False ENSG00000272047 ENSG00000272047 HGNC:21157 HMBS gene HMBS Expert Review;Expert Review Green;NHS GMS Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, porphyria-related, OMIM: 620711;Encephalopathy, porphyria-related, OMIM: 620704 14262853;1577472;15534187;14970743;31153822 False 3 100;0;0 7.10 False ENSG00000256269 ENSG00000256269 HGNC:4982 HMX1 gene HMX1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Oculoauricular syndrome Gillespie et al (2015) Invest. Ophthal. Vis. Sci. 56: 883-891;Schorderet et al (2008) Am. J. Hum. Genet. 82: 1178-1184 False 3 0;100;0 7.10 True ENSG00000215612 ENSG00000215612 HGNC:5017 HSF4 gene HSF4 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 5, multiple types, OMIM:116800 19014451;24045990;26490182;29243736;30143024 False 3 100;0;0 7.10 True ENSG00000102878 ENSG00000102878 HGNC:5227 HTRA2 gene HTRA2 Expert Review Green;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIII 617248" 27208207; 27696117 False 3 100;0;0 7.10 False ENSG00000115317 ENSG00000115317 HGNC:14348 INPP5K gene INPP5K Expert Review Green;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment 28190459; 28190456 False 3 100;0;0 7.10 False ENSG00000132376 ENSG00000132376 HGNC:33882 INTS1 gene INTS1 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 28542170;30622326;31428919 False 3 100;0;0 7.10 False ENSG00000164880 ENSG00000164880 HGNC:24555 JAM3 gene JAM3 Expert Review Green;Radboud University Medical Center, Nijmegen Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730;Hemorrhagic destruction of the brain, subependymal calcification, and cataracts False 3 100;0;0 7.10 True ENSG00000166086 ENSG00000166086 HGNC:15532 LCAT gene LCAT Expert Review;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal " Fish-eye disease 136120; Norum disease 245900" False 3 100;0;0 7.10 False ENSG00000213398 ENSG00000213398 HGNC:6522 LETM1 gene LETM1 Expert Review;Expert Review Green;NHS GMS Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 7.10 False ENSG00000168924 ENSG00000168924 HGNC:6556 LIM2 gene LIM2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cataract 19, multiple types, OMIM:615277 11917274;18596884;32202185;33078099;33708862;33923544;35736209 False 3 33;67;0 7.10 False ENSG00000105370 ENSG00000105370 HGNC:6610 LONP1 gene LONP1 Expert Review Green;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal CODAS syndrome, 600373 25574826;26622071;27878435;29408517;25808063;28148925 False 3 100;0;0 7.10 False ENSG00000196365 ENSG00000196365 HGNC:9479 LSS gene LSS Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cataract 44, 616509 16440058;29016354;26200641 False 3 100;0;0 7.10 False ENSG00000160285 ENSG00000160285 HGNC:6708 MAF gene MAF Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract, pulverulent or cerulean, with or without microcornea, 610202;CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES;CATARACT CONGENITAL CERULEAN TYPE 4;CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED (CAPJOM);Ayme-Gripp syndrome;Cataract 21, multiple types;Cataract pulverulent or cerulean with or without microcornea False 3 100;0;0 7.10 True ENSG00000178573 ENSG00000178573 HGNC:6776 MAN2B1 gene MAN2B1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mannosidosis alpha- types I and II Riise Steinland et al (2011) Hum Mutat 33:511-520;Berg et al (1999) Am j Hum Genet 64:77-88;Gotoda et al (1998) Am J Hum Genet 63:1015-1024;and many others False 3 0;100;0 7.10 True ENSG00000104774 ENSG00000104774 HGNC:6826 MED27 gene MED27 Expert Review Green;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Axial hypotonia;Spasticity;Dystonia;Cerebellar hypoplasia;Cataracts;Epilepsy 33443317 False 3 100;0;0 7.10 False ENSG00000160563 ENSG00000160563 HGNC:2377 MIP gene MIP Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataracts;Cataract 15, multiple types, 615274 False 3 100;0;0 7.10 True ENSG00000135517 ENSG00000135517 HGNC:7103 MIR184 gene MIR184 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EDICT Lechner et al (2013) Invest Ophthalmol Vis Sci 54:5266-5372;Hughes et al (2013) IOVS 54:5266;iliff et al (2012) IOVS 53:348-353 False 3 50;50;0 7.10 True ENSG00000207695 ENSG00000207695 HGNC:31555 MSMO1 gene MSMO1 Expert Review;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 False 3 100;0;0 7.10 False ENSG00000052802 ENSG00000052802 HGNC:10545 MYH9 gene MYH9 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epstein syndrome;Fechtner syndrome False 3 100;0;0 7.10 True ENSG00000100345 ENSG00000100345 HGNC:7579 NACC1 gene NACC1 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, OMIM:617393, MONDO:0044306 28132692 False 3 100;0;0 7.10 False ENSG00000160877 ENSG00000160877 HGNC:20967 NDP gene NDP Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie Disease False 3 100;0;0 7.10 True ENSG00000124479 ENSG00000124479 HGNC:7678 NF2 gene NF2 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Baser et al (2011) Genet Med 13(6):576-581 False 3 50;50;0 7.10 True ENSG00000186575 ENSG00000186575 HGNC:7773 NHS gene NHS Expert Review Green;Radboud University Medical Center, Nijmegen;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) Nance-Horan syndrome, 302350;Nance-Horan syndrome MIMID, Cataract congenital X-linked;cataract congenital X-linked;Nance-Horan syndrome;Nance-Horan syndrome, 302350;X-linked cataracts False 3 100;0;0 7.10 True ENSG00000188158 ENSG00000188158 HGNC:7820 NUP188 gene NUP188 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Sandestig-Stefanova syndrome, 618804 32021605;28726809;32275884 False 3 100;0;0 7.10 False ENSG00000095319 ENSG00000095319 HGNC:17859 OCRL gene OCRL Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, OMIM:309000;Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME 33517444 False 3 100;0;0 7.10 True ENSG00000122126 ENSG00000122126 HGNC:8108 OPA3 gene OPA3 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 3-methylglutaconic aciduria, type III, 258501;autosomal dominant optic atrophy with cataract (ADOAC) Reynier et al (2004) J Med genet 41:e110;Grau et al (2013) J Med Genet 50:848-858 False 3 50;50;0 7.10 True ENSG00000125741 ENSG00000125741 HGNC:8142 P3H2 gene P3H2 Expert Review Green;Radboud University Medical Center, Nijmegen Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3 Guo et al (2014) Clin Genet 86:575-579 PMID: 24172257;Khan et al (2015) Ophthalmic Genet. 36: 58-63 PMID: 25469533;Mordechai et al (2011) Hum. Genet. 89: 438-445 PMID: 21885030 False 3 50;0;50 7.10 True ENSG00000090530 ENSG00000090530 HGNC:19317 PAX6 gene PAX6 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Morning glory disc anomaly, 120430;Aniridia, 106210;Cataract with late-onset corneal dystrohpy, 106210;Coloboma of optic nerve, 120430;Coloboma, ocular, 120200;Foveal hypoplasia 1, 136520;Gillespie syndrome, 206700;Keratitis, 148190;Optic nerve hypoplasia, 165550;Peters anomaly, 604229;Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization;Optic Nerve Malformations;Foveal Hypoplasia and Presenile Cataract Syndrome False 3 100;0;0 7.10 True ENSG00000007372 ENSG00000007372 HGNC:8620 PEX1 gene PEX1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger);Refsum disease infantile;Adrenoleukodystrophy neonatal;Peroxisome biogenesis disorder False 3 100;0;0 7.10 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder False 3 100;0;0 7.10 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder Ebberink et al (2012) J Med Genet 49:307-13;Gillespie et al (2016) Ophthalmology 123:217-220 False 3 50;0;50 7.10 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger);PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3;Peroxisome biogenesis disorder False 3 100;0;0 7.10 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger);Adrenoleukodystrophy neonatal;Peroxisome biogenesis disorder False 3 100;0;0 7.10 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder False 3 100;0;0 7.10 True ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A, (Zellweger);Peroxisome biogenesis disorder False 3 100;0;0 7.10 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder False 3 100;0;0 7.10 True ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A, (Zellweger);Zellweger sydrome;Peroxisome biogenesis disorder False 3 100;0;0 7.10 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Adrenoleukodystrophy neonatal;Peroxisome biogenesis disorder 7A (Zellweger);Refsum disease infantile;Peroxisome biogenesis disorder False 3 100;0;0 7.10 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger);confirmed DD gene for Zellweger syndrome;Peroxisome biogenesis disorder False 3 100;0;0 7.10 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5 Baroy et al (2015) Hum Mol Genet 24(20:5845-5854;Ebberink et al (2009) Hum Mutat 30:93-98 False 3 100;0;0 7.10 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 2, OMIM:616617 26387595 False 3 100;0;0 7.10 True ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, OMIM:614879;Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100 False 3 100;0;0 7.10 True ENSG00000112357 ENSG00000112357 HGNC:8860 PIK3C2A gene PIK3C2A Expert Review Green;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome, OMIM:618440, MONDO:0034145 31034465 False 3 100;0;0 7.10 False ENSG00000011405 ENSG00000011405 HGNC:8971 PITX3 gene PITX3 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anterior segment mesenchymal dysgenesis, 107250;Cataract posterior polar 4;Anterior segment mesenchymal dysgenesis;cataract autosomal dominant;cataract posterior polar type 4 (CTPP4);Cataract 11, multiple types;Cataract 11, syndromic Berry et al (2004) J. Med. Genet. 41: e109 False 3 100;0;0 7.10 True ENSG00000107859 ENSG00000107859 HGNC:9006 PLOD3 gene PLOD3 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Lysyl hydroxylase 3 deficiency, MIM#612394 18834968;30463024;31129566 False 3 100;0;0 7.10 False ENSG00000106397 ENSG00000106397 HGNC:9083 POLG gene POLG Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal POLG-related disorders 20301791;29358615;22405928 False 3 100;0;0 7.10 False ENSG00000140521 ENSG00000140521 HGNC:9179 PXDN gene PXDN Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital cataract, corneal opacity, developmental glaucoma;corneal opacification associated with other ocular anomalies (COPA) Khan et al (2011) Invest. Ophthal. Vis. Sci. 52: 4294-4299;Choi et al. (2015) Europ. J. Hum. Genet. 23: 337-341 False 3 100;0;0 7.10 True ENSG00000130508 ENSG00000130508 HGNC:14966 RAB18 gene RAB18 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3;Warburg Micro syndrome-3 Handley et al (2013) Hum Mutat 34:686-96 False 3 100;0;0 7.10 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB3GAP1 gene RAB3GAP1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1;Warburg Micro syndrome-1 Handley et al (2013) Hum Mutat 34:686-96 False 3 100;0;0 7.10 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 Handley et al (2013) Hum Mutat 34:686-96 False 3 100;0;0 7.10 True ENSG00000118873 ENSG00000118873 HGNC:17168 SC5D gene SC5D Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Rossi et al (2007) Am J Med Genet A 143A:2371-2381;Gillespie et al (2014) Ophthalmology 121(11):2124-37 False 3 100;0;0 7.10 True ENSG00000109929 ENSG00000109929 HGNC:10547 SIL1 gene SIL1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 False 3 100;0;0 7.10 True ENSG00000120725 ENSG00000120725 HGNC:24624 SLC16A12 gene SLC16A12 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 47, juvenile, with microcornea, OMIM:612018;juvenile cataract-microcornea-renal glucosuria syndrome, MONDO:0012786 18304496;21778275;20181839;29088427 False 3 33;67;0 7.10 True Other - please provide details in the comments ENSG00000152779 ENSG00000152779 HGNC:23094 SLC2A1 gene SLC2A1 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Stomatin-deficient cryohydrocytosis with neurologic defects 608885" Gillespie et al (2016) Ophthalmol 123:217-220;Flatt et al (2011) 118(19):5267-77 False 3 50;50;0 7.10 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC33A1 gene SLC33A1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 42, autosomal dominant, 612539;Congenital cataracts, hearing loss, and neurodegeneration, 614482;Congenital cataracts hearing loss and neurodegeneration;AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN Huppke et al (2012) Am. J. Hum. Genet. 90: 61-68 False 3 100;0;0 7.10 True ENSG00000169359 ENSG00000169359 HGNC:95 SRD5A3 gene SRD5A3 Expert Review Green;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Kahrizi syndrome. Kahrizi et al (2011) Europ. J. Hum. Genet. 19: 115-117;Najmabadi et al (2011) Nature 478:57 False 3 50;50;0 7.10 True ENSG00000128039 ENSG00000128039 HGNC:25812 SREBF1 gene SREBF1 Expert Review Green;Literature Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mucoepithelial dysplasia, hereditary, OMIM:158310, MONDO:0008017 32497488;31790666;32902915 False 3 100;0;0 7.10 False ENSG00000072310 ENSG00000072310 HGNC:11289 TDRD7 gene TDRD7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital Cataract;Cataract 36, 613887 PMID: 25120344;24435515;Lachke et al (2011) Science 331(6024):1571-1576 False 3 50;50;0 7.10 True ENSG00000196116 ENSG00000196116 HGNC:30831 TFAP2A gene TFAP2A Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiooculofacial syndrome Gestri et al (2009) Hum Genet 126:791-803. Milunsky et al. 2008 Am J Hum Genet. 2 82(5):1171_1177. Reiber et al (2010) Am J Med Genet 152A:994-999. False 3 100;0;0 7.10 True ENSG00000137203 ENSG00000137203 HGNC:11742 VIM gene VIM Expert Review Green;Radboud University Medical Center, Nijmegen Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cataract 30, pulverulent, 116300 "PMID: 26694549;PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function;PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs 26;PMID:24142690 - ""Here, we generated knock-in mice expressing vimentin that have had the serine sites phosphorylated during mitosis substituted by alanine residues. Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice"". PMID: 18940912 - Vimentin-/- mice provided no evidence of an involvement of vimentin in the development of a specific disease. They therefore investigate the R113C point mutation in mice ""We demonstrate here for the first time that the expression of mutated vimentin induces a protein-stress response that contributes to disease pathology in mice, and hypothesise that vimentin mutations cause cataracts in humans.""" False 3 0;100;0 7.10 False ENSG00000026025 ENSG00000026025 HGNC:12692 VPS4A gene VPS4A Expert Review;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome 33186545;33186543;33460484 False 3 100;0;0 7.10 False ENSG00000132612 ENSG00000132612 HGNC:13488 VSX2 gene VSX2 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Microphthalmia/coloboma 3, OMIM:610092 Percin et al (2000) Nature Genet. 25: 397-401 False 3 100;0;0 7.10 True ENSG00000119614 ENSG00000119614 HGNC:1975 WFS1 gene WFS1 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Cataract 41, 116400 27217304;21067485;28468959;23531866;21623599;23373429;28271591;16151413;27468121 False 3 100;0;0 7.10 False ENSG00000109501 ENSG00000109501 HGNC:12762 WRN gene WRN Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Werner syndrome False 3 100;0;0 7.10 True ENSG00000165392 ENSG00000165392 HGNC:12791 XYLT2 gene XYLT2 Expert list;Expert Review Green Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome, 605822 26987875;26027496;28884924;30496831;29136277 False 3 100;0;0 7.10 False ENSG00000015532 ENSG00000015532 HGNC:15517 ZNF526 gene ZNF526 Expert Review Green;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 33397746 False 3 100;0;0 7.10 False ENSG00000167625 ENSG00000167625 HGNC:29415 COPB1 gene COPB1 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Baralle-Macken syndrome, OMIM:619255;Severe intellectual disability;Cataracts;Variable microcephaly 33632302 False 2 0;100;0 7.10 False ENSG00000129083 ENSG00000129083 HGNC:2231 CTDP1 gene CTDP1 Expert Review Amber;Radboud University Medical Center, Nijmegen Bilateral congenital or childhood onset cataracts Ophthalmology Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402 14517542;24690360 False 2 0;67;33 7.10 False ENSG00000060069 ENSG00000060069 HGNC:2498 DYRK1A gene DYRK1A Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 7, 614104 28053047;25944381;32838606;33562844 False 2 0;100;0 7.10 False ENSG00000157540 ENSG00000157540 HGNC:3091 GALM gene GALM Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Galactosemia IV, 618881 30451973;30910422 False 2 0;100;0 7.10 False ENSG00000143891 ENSG00000143891 HGNC:24063 GLS gene GLS Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 30239721 False 2 0;100;0 7.10 False ENSG00000115419 ENSG00000115419 HGNC:4331 LEMD2 gene LEMD2 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cataract 46, juvenile-onset, OMIM:212500 26788539;31061923 False 2 0;100;0 7.10 False ENSG00000161904 ENSG00000161904 HGNC:21244 PANK4 gene PANK4 Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital posterior cataract 30585370 False 2 0;100;0 7.10 False ENSG00000157881 ENSG00000157881 HGNC:19366 PGRMC1 gene PGRMC1 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Isolated paediatric cataract;cataract, MONDO:0005129 33867527;23783460 False 2 0;100;0 7.10 False ENSG00000101856 ENSG00000101856 HGNC:16090 PSMC3 gene PSMC3 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Deafness;cataract 32500975 False 2 0;100;0 7.10 False ENSG00000165916 ENSG00000165916 HGNC:9549 RDH11 gene RDH11 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118 24916380;34988992;41459630;41904678 False 2 100;0;0 7.10 False ENSG00000072042 ENSG00000072042 HGNC:17964 RIC1 gene RIC1 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal CATIFA syndrome 618761 27878435;31932796 False 2 0;0;100 7.10 False ENSG00000107036 ENSG00000107036 HGNC:17686 SIPA1L3 gene SIPA1L3 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Cataract 45 25804400;26231217;27993984;28951961 False 2 0;0;0 7.10 False ENSG00000105738 ENSG00000105738 HGNC:23801 SMG8 gene SMG8 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Microcephaly;Short stature;Facial dysmorphism;Cataract 31130284;33242396 False 2 0;100;0 7.10 False ENSG00000167447 ENSG00000167447 HGNC:25551 TKFC gene TKFC Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Ophthalmology BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, 618805 32004446 False 2 0;100;0 7.10 False ENSG00000149476 ENSG00000149476 HGNC:24552