Primary ovarian insufficiencyGene: PMM2
Clear evidence as early onset POI
Created: 9 Jun 2017, 3:31 p.m.
Comment when marking as ready: POI can be a feature of CDG type I
Created: 30 May 2017, 12:24 p.m.
females with CDG syndrome type I have primary ovarian failure
Created: 11 May 2017, 11:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital disorder of glycosylation, type Ia 212065
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
PMM2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
PMM2 was created by arianna