Pulmonary arterial hypertension

Gene: BMPR1B

I don't know

Comment on list classification: Downgraded from Amber to Red due expert review via email from Prof N.Morrell (BHF Professor of Cardiopulmonary Medicine, Director Cambridge BHF Centre for Cardiovascular Research, University of Cambridge School of Clinical Medicine).

Created: 23 Jun 2017, 10:17 a.m.

Update from Clinical Team: Leave as Amber rating for now, as there is limited evidence and only two variants have been reported

Created: 22 Jun 2017, 8:07 a.m.

Refer to clinical team for discussion of inclusion.

Created: 22 Jun 2017, 8:05 a.m.

Two unrelated cases reported PMID:22374147, 2 missense mutations (p.S160N and p.F392L) were reported in a cohort of 43 IPAH patients. 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%).

Created: 9 Jun 2017, 2:47 p.m.