Primary ovarian insufficiencyGene: 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.
This gene has been classified as Amber List (Moderate Evidence).
BMPR1B was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
BMPR1B was created by helen.savage