Primary ovarian insufficiency

Gene: BMPR1B

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.

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

• 28505269
• 15805157