Primary ovarian insufficiency
Gene: FOXO4
FOXO4 (forkhead box O4)
EnsemblGeneIds (GRCh38): ENSG00000184481
EnsemblGeneIds (GRCh37): ENSG00000184481
OMIM: 300033, Gene2Phenotype
FOXO4 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000184481
EnsemblGeneIds (GRCh37): ENSG00000184481
OMIM: 300033, Gene2Phenotype
FOXO4 is in 1 panel
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Insufficient evidence for inclusionCreated: 9 Jun 2017, 4:16 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red as only one variant reported in patients, ans also found in controlsCreated: 22 May 2017, 9:32 a.m.
Not associated with phenotype in OMIM. Has been shown to have a functional role in ovarian physiology. In pubmed, one paper in a Tunisian cohort with POI identified one variant both in cases and controls.Created: 11 May 2017, 9:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
premature ovarian insufficiency
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- premature ovarian insufficiency
- OMIM
- 300033
- Clinvar variants
- Variants in FOXO4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
22 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).
11 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)FOXO4 was created by arianna
11 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)FOXO4 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature