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
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