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 COPB1 gene COPB1 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Baralle-Macken syndrome, OMIM:619255;Severe intellectual disability;Cataracts;Variable microcephaly 33632302 False 2 0;100;0 4.9 False ENSG00000129083 ENSG00000129083 HGNC:2231 CTDP1 gene CTDP1 Expert Review Amber;Radboud University Medical Center, Nijmegen Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402 14517542;24690360 False 2 0;67;33 4.9 False ENSG00000060069 ENSG00000060069 HGNC:2498 DYRK1A gene DYRK1A Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 7, 614104 28053047;25944381;32838606;33562844 False 2 0;100;0 4.9 False ENSG00000157540 ENSG00000157540 HGNC:3091 GALM gene GALM Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia IV, 618881 30451973;30910422 False 2 0;100;0 4.9 False ENSG00000143891 ENSG00000143891 HGNC:24063 GEMIN4 gene GEMIN4 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 27878435;25558065;30237576 False 2 0;100;0 4.9 False ENSG00000179409 ENSG00000179409 HGNC:15717 GLS gene GLS Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders 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 4.9 False ENSG00000115419 ENSG00000115419 HGNC:4331 LETM1 gene LETM1 Expert Review;Expert Review Amber Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 2 100;0;0 4.9 False ENSG00000168924 ENSG00000168924 HGNC:6556 PANK4 gene PANK4 Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital posterior cataract 30585370 False 2 0;100;0 4.9 False ENSG00000157881 ENSG00000157881 HGNC:19366 PGRMC1 gene PGRMC1 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Isolated paediatric cataract;cataract, MONDO:0005129 33867527;23783460 False 2 0;100;0 4.9 False ENSG00000101856 ENSG00000101856 HGNC:16090 PSMC3 gene PSMC3 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Deafness;cataract 32500975 False 2 0;100;0 4.9 False ENSG00000165916 ENSG00000165916 HGNC:9549 RIC1 gene RIC1 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal CATIFA syndrome 618761 27878435;31932796 False 2 0;0;100 4.9 False ENSG00000107036 ENSG00000107036 HGNC:17686 SIPA1L3 gene SIPA1L3 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Cataract 45 25804400;26231217;27993984;28951961 False 2 0;0;0 4.9 False ENSG00000105738 ENSG00000105738 HGNC:23801 SMG8 gene SMG8 Expert Review Amber;Literature Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Microcephaly;Short stature;Facial dysmorphism;Cataract 31130284;33242396 False 2 0;100;0 4.9 False ENSG00000167447 ENSG00000167447 HGNC:25551 TKFC gene TKFC Expert list;Expert Review Amber Bilateral congenital or childhood onset cataracts Anterior segment abnormalities Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, 618805 32004446 False 2 0;100;0 4.9 False ENSG00000149476 ENSG00000149476 HGNC:24552