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
NOP10	gene	NOP10	Expert Review Amber;Literature;Victorian Clinical Genetics Services	Hereditary Pigmentary Disorders		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	dyskeratosis congenita, autosomal recessive 1 MONDO:0009136			Abnormality of skin pigmentation;HP:0001000	17507419;32554502;32139460		False	2	0;100;0	1.5	True		ENSG00000182117	ENSG00000182117	HGNC:14378													
SNAI2	gene	SNAI2	Expert list;Expert Review Amber;Victorian Clinical Genetics Services	Hereditary Pigmentary Disorders		Dermatological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	piebaldism MONDO:0008244;Waardenburg syndrome type 2D MONDO:0012144			Abnormality of skin pigmentation;HP:0001000	12444107;30936914;12955764;24443330		False	2	0;100;0	1.5	True		ENSG00000019549	ENSG00000019549	HGNC:11094