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 AHR gene AHR Expert list;Expert Review Amber Albinism or congenital nystagmus BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 85, 618345;Foveal hypoplasia without albinism;Infantile nystagmus 28851966;31009037;23301081 False 2 0;100;0 3.5 False ENSG00000106546 ENSG00000106546 HGNC:348 AP3D1 gene AP3D1 Expert Review Amber;NHS GMS Albinism or congenital nystagmus BIALLELIC, autosomal or pseudoautosomal ?Hermansky-Pudlak syndrome 10 617050 AR False 2 0;100;0 3.5 False ENSG00000065000 ENSG00000065000 HGNC:568 CLCN7 gene CLCN7 Expert Review Amber;Literature Albinism or congenital nystagmus MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 31155284 False 2 0;100;0 3.5 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 CLDN11 gene CLDN11 Expert Review Amber;Literature Albinism or congenital nystagmus MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 22, OMIM:619328 33313762 False 2 100;0;0 3.5 False ENSG00000013297 ENSG00000013297 HGNC:8514 CNGB3 gene CNGB3 Expert Review;Expert Review Amber Albinism or congenital nystagmus BIALLELIC, autosomal or pseudoautosomal Achromatopsia 3, OMIM:262300 10888875;10958649;35332618 False 2 100;0;0 3.5 False ENSG00000170289 ENSG00000170289 HGNC:2153 DTNBP1 gene DTNBP1 Expert Review Amber;NHS GMS Albinism or congenital nystagmus BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 7 614076 AR False 2 0;100;0 3.5 False ENSG00000047579 ENSG00000047579 HGNC:17328 MANBA gene MANBA Expert Review Amber;NHS GMS Albinism or congenital nystagmus BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta 248510 AR False 2 0;100;0 3.5 False ENSG00000109323 ENSG00000109323 HGNC:6831 MLPH gene MLPH Expert Review Amber;NHS GMS Albinism or congenital nystagmus BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 3 609227 AR False 2 0;100;0 3.5 False ENSG00000115648 ENSG00000115648 HGNC:29643 MYO5A gene MYO5A Expert Review Amber;NHS GMS Albinism or congenital nystagmus BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 1 214450 AR False 2 0;100;0 3.5 False ENSG00000197535 ENSG00000197535 HGNC:7602 TULP1 gene TULP1 Expert Review Amber;NHS GMS Albinism or congenital nystagmus BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 15 613843 AR;Retinitis pigmentosa 14 600132 AR False 2 0;100;0 3.5 False ENSG00000112041 ENSG00000112041 HGNC:12423