Genomics England

Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease, R336

Signed off date: 22 Mar 2023

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off

15 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACVRL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANGPTL6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CCM2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL3A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ENG	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GUCY1A3	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KRIT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDCD10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RASA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNF213	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SAMHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	YY1AP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A