Genomics England

Genes and Entities

Pulmonary arterial hypertension (Version: )

Relevant disorders: PAH, R188

Signed off date: 30 Nov 2022

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

See this panel in PanelApp

11 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACVRL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP13A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EIF2AK4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ENG	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GDF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNK3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX17	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A