Pulmonary arterial hypertension

Gene: BMPR2

PMID: 28388887 provides further evidence that rare variants in this gene contribute to the risk of familial pulmonary arterial hypertension.

Created: 14 Aug 2017, 1:53 p.m.

Publications

• 28388887

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: BMPR2; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PPH gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): Causative of majority of cases

Created: 6 Dec 2018, 2:01 p.m.

There are more than three unrelated cases for Pulmonary venoocclusive disease: PMID 25917481,12446270,16429395, 18626305. For Primary pulmonary hypertension there are several unrelated cases: PMID 10973254, 11015450, 12358323. PMID: 20301658 notes that most heritable PAH (75%) is caused by a pathogenic variant in BMPR2; pathogenic variants in other genes (i.e., ACVRL1, KCNK3, CAV1, SMAD9, BMPR1B,) are considerably less common (1-3%). In PMID: 21898662 candidate gene analysis was undertaken, members of the bone morphogenetic protein (BMP) pathway, namely SMAD1, SMAD4, SMAD5, and SMAD9, were screened by direct sequencing for gene defects. Four variants were identified among a cohort of 324 PAH cases. The results demonstrated the role of BMPR2 mutation in the pathogenesis of PAH and indicated that variation within the SMAD family represents an infrequent cause of the disease.

Created: 9 Jun 2017, 2:16 p.m.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension

Publications

• 10973254