Primary ovarian insufficiency
Gene: SGO2EnsemblGeneIds (GRCh38): ENSG00000163535
EnsemblGeneIds (GRCh37): ENSG00000163535
OMIM: 612425, Gene2Phenotype
SGO2 is in 1 panel
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as amber as only reported in one familyCreated: 30 May 2017, 12:46 p.m.
Comment when marking as ready: Marked as amber as only reported in one familyCreated: 30 May 2017, 12:46 p.m.
One variant reported in one large kinderd
Created: 26 May 2017, 11:04 a.m.
New gene name SGO2Created: 25 May 2017, 12:12 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- PERRAULT SYNDROME
- OMIM
- 612425
- Clinvar variants
- Variants in SGO2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Changed Gene Name
GEL ()SGOL2 was changed to SGO2
Removed Tag
GEL ()new-gene-name was removed from SGOL2. Panel: Early onset familial premature ovarian insufficiency
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Changed Gene Name
Arianna Tucci (Genomics England Curator)SGO2* was changed to SGOL2
Added New Source
Arianna Tucci (Genomics England Curator)SGO2* was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
Created
Arianna Tucci (Genomics England Curator)SGO2* was created by arianna