Genomics England
GMS Panels
Panels
Genes and Entities

BMPR2

bone morphogenetic protein receptor type 2
OMIM: 600799
PanelMode of inheritanceDetails
1 panel
Green
in Pulmonary arterial hypertension
R-numbers: R188
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Idiopathic pulmonary arterial hypertension, IPAH, Heritable pulmonary arterial hypertension, HPAH, Pulmonary arterial hypertension, Pulmonary venoocclusive disease 1, 265450, PVOD