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
AGGF1	gene	AGGF1	Expert Review Red;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Susceptibility to Klippel-Trenaunay-Weber syndrome						False	1	0;0;100	2.5	False		ENSG00000164252	ENSG00000164252	HGNC:24684													
ANTXR1	gene	ANTXR1	Expert Review Red;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{?Hemangioma, capillary infantile, susceptibility to}, OMIM:602089						False	1	0;0;100	2.5	False		ENSG00000169604	ENSG00000169604	HGNC:21014													
AP3B1	gene	AP3B1	Expert Review Red	Vascular skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 2						False	1	0;100;0	2.5	False		ENSG00000132842	ENSG00000132842	HGNC:566													
CPO	gene	CPO	Expert Review Red	Vascular skin disorders		Dermatology								False	1	0;100;0	2.5	False		ENSG00000144410	ENSG00000144410	HGNC:21011													
CPOX	gene	CPOX	Expert Review Red	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	0;50;50	2.5	False		ENSG00000080819	ENSG00000080819	HGNC:2321													
IDH1	gene	IDH1	Expert Review Red;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ollier disease;Maffucci syndrome						False	1	0;0;100	2.5	False		ENSG00000138413	ENSG00000138413	HGNC:5382													
IDH2	gene	IDH2	Expert Review Red;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ollier disease;Maffucci syndrome						False	1	0;0;100	2.5	False		ENSG00000182054	ENSG00000182054	HGNC:5383													
KDR	gene	KDR	Expert Review Red;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Susceptibility to infantile haemangioma				18931684;11807987		False	1	50;50;0	2.5	False		ENSG00000128052	ENSG00000128052	HGNC:6307													
PPOX	gene	PPOX	Expert Review Red	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	1	0;50;50	2.5	False		ENSG00000143224	ENSG00000143224	HGNC:9280													
VEGFA	gene	VEGFA	Expert Review Red;London North GLH;NHS GMS	Vascular skin disorders		Dermatology		Association with POEMS syndrome						False	1	0;0;100	2.5	False		ENSG00000112715	ENSG00000112715	HGNC:12680