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
ABCD4	gene	ABCD4	Expert Review Amber;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Progressive hyperpigmentation due to VitB12 metabolism defect				25234635		False	2	50;50;0	4.13	False		ENSG00000119688	ENSG00000119688	HGNC:68													
FLNA	gene	FLNA	Expert Review Amber;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Terminal osseous dysplasia, OMIM:300244				17152064;18792982;20598277;30561107		False	2	0;50;50	4.13	False		ENSG00000196924	ENSG00000196924	HGNC:3754													
IL31RA	gene	IL31RA	Expert Review Amber	Pigmentary skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	2	0;100;0	4.13	False		ENSG00000164509	ENSG00000164509	HGNC:18969													
LTV1	gene	LTV1	Expert Review Amber;Literature	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199				34999892		False	2	0;100;0	4.13	False		ENSG00000135521	ENSG00000135521	HGNC:21173													
MAD2L2	gene	MAD2L2	Expert Review;Expert Review Amber	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	FANCV;FANCONI ANEMIA, COMPLEMENTATION GROUP V				27500492		False	2	50;50;0	4.13	False		ENSG00000116670	ENSG00000116670	HGNC:6764													
MLPH	gene	MLPH	Expert Review Amber	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal							False	2	33;67;0	4.13	False		ENSG00000115648	ENSG00000115648	HGNC:29643													
NDUFB11	gene	NDUFB11	Expert Review Amber;Other	Pigmentary skin disorders		Dermatology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Linear skin defects with multiple congenital anomalies 3, OMIM:300952				33670341		False	2	100;0;0	4.13	False		ENSG00000147123	ENSG00000147123	HGNC:20372													
RAD51C	gene	RAD51C	Expert Review;Expert Review Amber	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	FANCONI ANEMIA, COMPLEMENTATION GROUP O;FANCO				20400963		False	2	50;50;0	4.13	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
SNAI2	gene	SNAI2	Expert Review Amber;London North GLH;NHS GMS	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Piebaldism						False	2	60;40;0	4.13	False		ENSG00000019549	ENSG00000019549	HGNC:11094													
XRCC2	gene	XRCC2	Expert Review;Expert Review Amber	Pigmentary skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	?Fanconi anemia, complementation group U, OMIM:617247;Fanconi anemia complementation group U, MONDO:0014987				22232082;27208205		False	2	67;33;0	4.13	False		ENSG00000196584	ENSG00000196584	HGNC:12829