Genomics England

Vascular skin disorders (Version: )

Relevant disorders: R326

Signed off date: 15 Oct 2020

Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

21 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACVRL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADAMTS13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAS2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ATM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENG	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EPHB4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	F12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FECH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLT4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLMN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRIT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIK3CA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIK3R2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RASA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN9A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX18	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TEK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMEM173	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name

Vascular skin disorders (Version: 1.3)

Vascular skin disorders (Version: )