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
ACVRL1	gene	ACVRL1	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376				8640225		False	3	100;0;0	2.5	False		ENSG00000139567	ENSG00000139567	HGNC:175													
ADAMTS13	gene	ADAMTS13	Expert Review Green	Vascular skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150				11586351		False	3	33;33;33	2.5	False		ENSG00000160323	ENSG00000160323	HGNC:1366													
AKT3	gene	AKT3	Expert list;Expert Review Green;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)				23745724;22729224		False	3	100;0;0	2.5	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000117020	ENSG00000117020	HGNC:393													
ALAS2	gene	ALAS2	Expert Review;Expert Review Green	Vascular skin disorders		Dermatology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Protoporphyria, erythropoietic, X-linked, OMIM:300752				18760763		False	3	67;0;33	2.5	False		ENSG00000158578	ENSG00000158578	HGNC:397													
ATM	gene	ATM	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Ataxia telengiectasia, OMIM:208900				7792600		False	3	100;0;0	2.5	False		ENSG00000149311	ENSG00000149311	HGNC:795													
CCBE1	gene	CCBE1	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510				19935664		False	3	67;0;33	2.5	False		ENSG00000183287	ENSG00000183287	HGNC:29426													
ENG	gene	ENG	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300				7894484		False	3	100;0;0	2.5	False		ENSG00000106991	ENSG00000106991	HGNC:3349													
EPHB4	gene	EPHB4	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation 2, OMIM:618196				28687708		False	3	100;0;0	2.5	False		ENSG00000196411	ENSG00000196411	HGNC:3395													
F12	gene	F12	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Angioedema, hereditary, type III, OMIM:610618;Factor XII deficiency, OMIM:234000				16638441		False	3	67;0;33	2.5	False		ENSG00000131187	ENSG00000131187	HGNC:3530													
FECH	gene	FECH	Expert Review Green	Vascular skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Protoporphyria, erythropoietic, 1, OMIM:177000;protoporphyria, erythropoietic, 1, MONDO:0008319				7857832;9649563;10954661		False	3	50;25;25	2.5	False		ENSG00000066926	ENSG00000066926	HGNC:3647													
FLT4	gene	FLT4	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hemangioma, capillary infantile, somatic, OMIM:602089				10835628;11807987		False	3	67;0;33	2.5	False		ENSG00000037280	ENSG00000037280	HGNC:3767													
FOXC2	gene	FOXC2	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphoedema-distichiasis syndrome, OMIM:153400				11078474		False	3	67;0;33	2.5	False		ENSG00000176692	ENSG00000176692	HGNC:3801													
GLMN	gene	GLMN	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Glomulovenous malformations, OMIM:138000				11845407		False	3	100;0;0	2.5	False		ENSG00000174842	ENSG00000174842	HGNC:14373													
KRIT1	gene	KRIT1	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860				10508515		False	3	100;0;0	2.5	False		ENSG00000001631	ENSG00000001631	HGNC:1573													
PIK3CA	gene	PIK3CA	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	PIK3CA-related overgrowth syndromes;Vascular malformation, MONDO:0024291				22658544;22729223;22729222;23246288;22729224		False	3	100;0;0	2.5	False		ENSG00000121879	ENSG00000121879	HGNC:8975													
PIK3R2	gene	PIK3R2	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387				22729224;23745720;28502725;26520804		False	3	67;0;33	2.5	False		ENSG00000105647	ENSG00000105647	HGNC:8980													
RASA1	gene	RASA1	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation syndrome 1, OMIM:608354				14639529		False	3	100;0;0	2.5	False		ENSG00000145715	ENSG00000145715	HGNC:9871													
SCN9A	gene	SCN9A	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Erythermalgia, primary, OMIM:133020				14985375		False	3	100;0;0	2.5	False		ENSG00000169432	ENSG00000169432	HGNC:10597													
SMAD4	gene	SMAD4	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050				15031030		False	3	100;0;0	2.5	False		ENSG00000141646	ENSG00000141646	HGNC:6770													
SOX18	gene	SOX18	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940				12740761		False	3	100;0;0	2.5	False		ENSG00000203883	ENSG00000203883	HGNC:11194													
STAMBP	gene	STAMBP	Expert list;Expert Review Green;NHS GMS	Vascular skin disorders		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly-capillary malformation syndrome, OMIM:614261				21271646;21548128;21815250;23542699;25692795;27531570;29907875		False	3	100;0;0	2.5	False		ENSG00000124356	ENSG00000124356	HGNC:16950													
TEK	gene	TEK	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Venous malformations, multiple cutaneous and mucosal, OMIM:600195				19888299		False	3	100;0;0	2.5	False		ENSG00000120156	ENSG00000120156	HGNC:11724													
TMEM173	gene	TMEM173	Expert Review Green;London North GLH;NHS GMS	Vascular skin disorders		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	STING-associated vasculopathy, infantile-onset, OMIM:615934				25029335		False	3	100;0;0	2.5	False		ENSG00000184584	ENSG00000184584	HGNC:27962