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
CARD14	gene	CARD14	Expert Review Amber;Genomics England PanelApp;NHS GMS	Mosaic skin disorders		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inflammatory linear verrucous epidermal naevus			Abnormality of skin pigmentation;HP:0001000	34116062		False	2	0;50;50	1.12	True	Other	ENSG00000141527	ENSG00000141527	HGNC:16446													
MAP2K1	gene	MAP2K1	Expert Review Amber;Genomics England PanelApp;NHS GMS	Mosaic skin disorders		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	vascular malformations			Abnormality of skin pigmentation;HP:0001000	29461977		False	2	50;50;0	1.12	True		ENSG00000169032	ENSG00000169032	HGNC:6840													
PMVK	gene	PMVK	Expert Review Amber;Genomics England PanelApp;NHS GMS	Mosaic skin disorders		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Linear porokeratosis;Porokeratosis 1, multiple types, MIM# 175800			Abnormality of skin pigmentation;HP:0001000	30942823;26202976		False	2	0;100;0	1.12	True		ENSG00000163344	ENSG00000163344	HGNC:9141													
RASA1	gene	RASA1	Expert Review Amber;Genomics England PanelApp;NHS GMS	Mosaic skin disorders		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation syndrome			Abnormality of skin pigmentation;HP:0001000	30635911;24038909		False	2	50;50;0	1.12	True		ENSG00000145715	ENSG00000145715	HGNC:9871													
TEK	gene	TEK	Expert Review Amber;Genomics England PanelApp;NHS GMS	Mosaic skin disorders		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Venous malformations, multiple cutaneous and mucosal, 600195			Abnormality of skin pigmentation;HP:0001000	27519652		False	2	0;100;0	1.12	True		ENSG00000120156	ENSG00000120156	HGNC:11724