Primary ovarian insufficiencyGene: STAG3
Clear evidence of AR inheritance in affected individuals in publications cited.
Created: 9 Jun 2017, 4:13 p.m.
Comment when marking as ready: Marked as green enough evidence for this gene to be associated with POI
Created: 30 May 2017, 1:02 p.m.
Associated with phenotype in OMIM. 2 variants reported in 2 unrelated consanguineous families.
Functional evidence in a mouse model where deficiency of Stag3 in female mice results in severe and early ovarian dysgenesis, with distinctive lack of oocytes and ovarian follicles.
Created: 11 May 2017, 9:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Premature ovarian failure 8, 615723
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).
STAG3 was created by ellenmcdonagh
STAG3 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list