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 GPR143 gene GPR143 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Ocular and oculo-cutaneous albinism X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ocular albinism, type I, Nettleship-Falls type, 300500 False 3 100;0;0 1.24 False ENSG00000101850 ENSG00000101850 HGNC:20145 HPS1 gene HPS1 Expert list;Expert Review Green;Literature Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1 9705234;10971344;9497254;7573033 False 3 50;0;50 1.24 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 Expert Review;Expert Review Green;Literature Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3 11590544; 11455388 False 3 50;0;50 1.24 False ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 Expert list;Expert Review Green;Literature Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4 15108212; 11836498 False 3 50;0;50 1.24 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 Expert list;Expert Review Green;Literature Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5 12548288;18182080;26785811;27593200;28296950 False 3 50;0;50 1.24 False ENSG00000110756 ENSG00000110756 HGNC:17022 LRMDA gene LRMDA Emory Genetics Laboratory;Expert Review Green Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VII PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11;PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism;23395477 False 3 100;0;0 1.24 False ENSG00000148655 ENSG00000148655 HGNC:23405 LYST gene LYST Expert list;Expert Review Green Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal oculo-cutaneous albinism;Chediak-Higashi syndrome;optic neuropathy with progressive vision loss "8896560;9215679;10482950;20301751 - ""Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.""" False 3 100;0;0 1.24 False ENSG00000143669 ENSG00000143669 HGNC:1968 OCA2 gene OCA2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Oculocutaneous Albinism;Albinism, brown oculocutaneous; Albinism, oculocutaneous, type II; Skin/hair/eye pigmentation 1, blond/brown hair;Skin/hair/eye pigmentation 1, blue/nonblue eyes False 3 100;0;0 1.24 False ENSG00000104044 ENSG00000104044 HGNC:8101 SLC24A5 gene SLC24A5 Emory Genetics Laboratory;Expert Review Green Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VI;Non-Syndromic Oculocutaneous Albinism 23364476 - case report of patient of Chinese origin;27129268 - functional data to support the phenotypic effects of variants reported;26686029 case identified in a cohort South-Italian origin;23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism False 3 100;0;0 1.24 False ENSG00000188467 ENSG00000188467 HGNC:20611 SLC45A2 gene SLC45A2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240;Oculocutaneous Albinism;Albinism, oculocutaneous, type IV False 3 100;0;0 1.24 False ENSG00000164175 ENSG00000164175 HGNC:16472 TYR gene TYR Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IA, OMIM:203100;Albinism, oculocutaneous, type IB, OMIM:606952;Waardenburg syndrome/albinism, digenic, OMIM:103470 False 3 100;0;0 1.24 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Ocular and oculo-cutaneous albinism BIALLELIC, autosomal or pseudoautosomal Oculocutaneous Albinism;Albinism, oculocutaneous, type III False 3 100;0;0 1.24 False ENSG00000107165 ENSG00000107165 HGNC:12450 GNAI3 gene GNAI3 Literature Ocular and oculo-cutaneous albinism MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Auriculocondylar syndrome 1 602483" 27607449 False 1 0;0;100 1.24 False ENSG00000065135 ENSG00000065135 HGNC:4387 MITF gene MITF Expert Review Red;Radboud University Medical Center, Nijmegen Ocular and oculo-cutaneous albinism MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Waardenburg syndrome/ocular albinism, digenic,103470;Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A);Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA) False 1 100;0;0 1.24 False ENSG00000187098 ENSG00000187098 HGNC:7105