Primary ovarian insufficiency

Gene: BMPR1B

Amber List (moderate evidence)

BMPR1B (bone morphogenetic protein receptor type 1B)
EnsemblGeneIds (GRCh38): ENSG00000138696
EnsemblGeneIds (GRCh37): ENSG00000138696
OMIM: 603248, Gene2Phenotype
BMPR1B is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Comments for the BMPR1B gene from Arianna Tucci (Genomics England Curator), May 18, 2017, 9:49 a.m: "Biallelic mutations cause Acromesomelic dysplasia Demirhan type (OMIM 609441), of which POI is a feature. Recently, a whole exome sequencing study in a large cohort of patients with non syndromic POI identifies two monoallelic missense variants in BMPR1B in two patients. Given the frequency of the two variants in Exac and the lack of segregation data, I am unsure of their association with non syndromic POI". Marked as amber as the association with Acromesomelic dysplasia has been reported in one family only. 2 variants reported in sporadic POI.
Created: 15 Aug 2017, 1:09 p.m.

Helen Savage (Congenica Ltd)

I don't know

Please refer to comments for BMPR1B-AS1. I suspect that BMPR1B-AS1 was added to this panel by mistake.
Created: 26 Jun 2017, 9:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature Ovarian Insufficiency

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Premature Ovarian Insufficiency
OMIM
603248
Clinvar variants
Variants in BMPR1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

26 Jun 2017, Gel status: 0

Added New Source

Helen Savage (Congenica Ltd)

BMPR1B was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

26 Jun 2017, Gel status: 0

Created

Helen Savage (Congenica Ltd)

BMPR1B was created by helen.savage