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 AP3B1 gene AP3B1 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, MIM# 608233;MONDO:0011997 Albinism HP:0001022; Ocular albinism;HP:0001107 10024875;11809908;14566336 False 3 100;0;0 1.11 True ENSG00000132842 ENSG00000132842 HGNC:566 BLOC1S3 gene BLOC1S3 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 8, MIM# 614077;MONDO:0013560 Albinism HP:0001022; Ocular albinism;HP:0001107 16385460;22709368;32687635 False 3 100;0;0 1.11 True ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S5 gene BLOC1S5 Expert Review Green;Literature Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky Pudlak syndrome type 11, 619172 Albinism HP:0001022; Ocular albinism;HP:0001107 PMID: 32565547 False 3 100;0;0 1.11 True ENSG00000188428 ENSG00000188428 HGNC:18561 BLOC1S6 gene BLOC1S6 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 9, MIM# 614171 Albinism HP:0001022; Ocular albinism;HP:0001107 32245340;33543539;29054114;26575419;22461475;10610180 False 3 50;50;0 1.11 True ENSG00000104164 ENSG00000104164 HGNC:8549 DCT gene DCT Expert Review Green;Literature Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Oculocutaneous albinism, type VIII, MIM# 619165" Albinism HP:0001022; Ocular albinism;HP:0001107 33100333 False 3 100;0;0 1.11 True ENSG00000080166 ENSG00000080166 HGNC:2709 DTNBP1 gene DTNBP1 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 7, MIM# 614076;MONDO:0013559 Albinism HP:0001022; Ocular albinism;HP:0001107 12923531;23364359;28259707;30990103 False 3 100;0;0 1.11 True ENSG00000047579 ENSG00000047579 HGNC:17328 GPR143 gene GPR143 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ocular albinism, type I, Nettleship-Falls type, MIM# 300500;MONDO:0021019 Albinism HP:0001022; Ocular albinism;HP:0001107 7647783;9529334;11793467 False 3 100;0;0 1.11 True ENSG00000101850 ENSG00000101850 HGNC:20145 HPS1 gene HPS1 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, MIM# 203300;MONDO:0008748 Albinism HP:0001022; Ocular albinism;HP:0001107 9497254 False 3 100;0;0 1.11 True ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3, MIM# 614072;MONDO:0013555 Albinism HP:0001022; Ocular albinism;HP:0001107 11455388;31880485;31621111;30990103 False 3 100;0;0 1.11 True ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, MIM# 614073;MONDO:0013556 Albinism HP:0001022; Ocular albinism;HP:0001107 11836498;12664304 False 3 100;0;0 1.11 True ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5 (MIM#614074) Albinism HP:0001022; Ocular albinism;HP:0001107 28296950;32725903 False 3 100;0;0 1.11 True ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6, MIM# 614075;MONDO:0013558 Albinism HP:0001022; Ocular albinism;HP:0001107 12548288;17041891;19843503 False 3 100;0;0 1.11 True ENSG00000166189 ENSG00000166189 HGNC:18817 LRMDA gene LRMDA Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VII, MIM# 615179;MONDO:0014070 Albinism HP:0001022; Ocular albinism;HP:0001107 23395477 False 3 100;0;0 1.11 True ENSG00000148655 ENSG00000148655 HGNC:23405 LYST gene LYST Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, MIM# 214500 Albinism HP:0001022; Ocular albinism;HP:0001107 False 3 100;0;0 1.11 True ENSG00000143669 ENSG00000143669 HGNC:1968 OCA2 gene OCA2 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Albinism, brown oculocutaneous, MIM# 203200;Albinism, oculocutaneous, type II, MIM# 203200 Albinism HP:0001022; Ocular albinism;HP:0001107 32741191;20301410 False 3 100;0;0 1.11 True ENSG00000104044 ENSG00000104044 HGNC:8101 SLC24A5 gene SLC24A5 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VI, MIM# 113750 Albinism HP:0001022; Ocular albinism;HP:0001107 23364476;23985994;26491832 False 3 100;0;0 1.11 True ENSG00000188467 ENSG00000188467 HGNC:20611 SLC45A2 gene SLC45A2 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IV, MIM# 606574;MONDO:0011683 Albinism HP:0001022; Ocular albinism;HP:0001107 11574907;14722913;14961451 False 3 100;0;0 1.11 True ENSG00000164175 ENSG00000164175 HGNC:16472 TYR gene TYR Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IA, MIM# 203100;MONDO:0008745;Albinism, oculocutaneous, type IB, MIM# 606952 Albinism HP:0001022; Ocular albinism;HP:0001107 False 3 100;0;0 1.11 True ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Expert Review Green;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type III, MIM# 203290;MONDO:0008747 Albinism HP:0001022; Ocular albinism;HP:0001107 9345097 False 3 100;0;0 1.11 True ENSG00000107165 ENSG00000107165 HGNC:12450 AP3D1 gene AP3D1 Expert Review;Expert Review Amber;Literature;NHS GMS Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 10, MIM# 617050 Albinism HP:0001022; Ocular albinism;HP:0001107 (PMID: 26744459;30472485;19032734;36445457) False 2 0;100;0 1.11 True ENSG00000065000 ENSG00000065000 HGNC:568 CLCN7 gene CLCN7 Expert Review Amber;Literature Ocular and Oculocutaneous Albinism Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Albinism HP:0001022; Ocular albinism;HP:0001107 31155284 False 2 0;100;0 1.11 True 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 MC1R gene MC1R Expert Review Amber;Victorian Clinical Genetics Services Ocular and Oculocutaneous Albinism Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200 Albinism HP:0001022; Ocular albinism;HP:0001107 12876664 False 2 0;100;0 1.11 True ENSG00000258839 ENSG00000258839 HGNC:6929 TPCN2 gene TPCN2 Expert Review Amber;Literature Ocular and Oculocutaneous Albinism Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopigmentation of the skin MONDO:0019290 Albinism HP:0001022; Ocular albinism;HP:0001107 36641477 False 2 0;100;0 1.11 True Other ENSG00000162341 ENSG00000162341 HGNC:20820