Primary ovarian insufficiency

Gene: BMPR1B-AS1

Comment on list classification: Removed this gene: this was added accidently, and should be BMPR1B.

Created: 15 Aug 2017, 1:12 p.m.

Red List (low evidence)

Both publications referred to in previous reviews of this gene actually refer to BMPR1B, not BMPR1B-AS1. The relevance of BMPR1B-AS1 to this disorder is therefore not clear.

BMPR1B is missing from this panel.

Created: 26 Jun 2017, 9:52 a.m.

I don't know

Comment when marking as ready: Marked as amber as the association with Acromesomelic dysplasia has been reported in one family only.
2 variants reported in sporadic POI.

Created: 22 May 2017, 9:07 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

Created: 18 May 2017, 8:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
premature ovarian insufficiency

Publications

• 28505269