Pulmonary arterial hypertension

Gene: BMPR1B

Red List (low evidence)

BMPR1B (bone morphogenetic protein receptor type 1B)
EnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
OMIM
603248
Clinvar variants
Variants in BMPR1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Jun 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Jun 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.

9 Jun 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Jun 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

BMPR1B was added to Pulmonary arterial hypertensionpanel. Sources: Literature

9 Jun 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

BMPR1B was created by LouiseD