Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: STAG3EnsemblGeneIds (GRCh38): ENSG00000066923
EnsemblGeneIds (GRCh37): ENSG00000066923
OMIM: 608489, Gene2Phenotype
STAG3 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least four unrelated families with ovarian failure and a supporting null mouse model.Created: 17 Jun 2020, 11:43 p.m. | Last Modified: 17 Jun 2020, 11:43 p.m.
Panel Version: 0.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian failure 8 MIM#615723
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Genetic Health QLD
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Premature ovarian failure 8 MIM#615723
- OMIM
- 608489
- Clinvar variants
- Variants in STAG3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672 to Premature ovarian failure 8 MIM#615723
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903; 31125047; 31682730; 32634216
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723 to Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: STAG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Source Genetic Health QLD was added to STAG3. Mode of inheritance for gene STAG3 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: stag3 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: STAG3 were changed from to Premature ovarian failure 8 MIM#615723
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: STAG3 were set to
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: STAG3 was added gene: STAG3 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: STAG3 was set to BIALLELIC, autosomal or pseudoautosomal