Genomics England

Relevant disorders: Familial and multiple pulmonary arteriovenous malformations, R186

Signed off date: 30 Nov 2022

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

6 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	ENG	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EPHB4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GDF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RASA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A