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  3. STAG3
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Primary ovarian insufficiency

Gene: STAG3

Green List (high evidence)
STAG3 (stromal antigen 3)
EnsemblGeneIds (GRCh38): ENSG00000066923
EnsemblGeneIds (GRCh37): ENSG00000066923
OMIM: 608489, Gene2Phenotype
STAG3 is in 1 panel

3 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Clear evidence of AR inheritance in affected individuals in publications cited.
Created: 9 Jun 2017, 4:13 p.m.
Created: 9 Jun 2017, 4:13 p.m.

Panel version: 1.0

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Premature ovarian failure 8, 615723

Publications

Created: 11 May 2017, 9:24 a.m.

Panel version: 0.7

Ellen McDonagh (Genomics England Curator)

Publications

Created: 13 Jun 2016, 2:37 p.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • premature ovarian failure
OMIM
608489
Clinvar variants
Variants in STAG3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STAG3 was created by ellenmcdonagh

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

STAG3 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list