Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: REC8EnsemblGeneIds (GRCh38): ENSG00000100918
EnsemblGeneIds (GRCh37): ENSG00000100918
OMIM: 608193, Gene2Phenotype
REC8 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
PMID: 34707299 - a French POI case with compound het predicted loss of function variants
PMID: 15515002 - Rec8-/- female mice demonstrated ovarian dysgenesis and lack of ovarian follicles at reproductive maturity.
PMID: 27603904 - 2 sisters with POI segregating a missense in REC8 inherited from the unaffected mother (p.Gln154Arg) and a missense in GDF9 inherited from the father. Possible digenic inheritance.
Sources: LiteratureCreated: 6 Dec 2021, 3:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Primary ovarian insufficiency
- OMIM
- 608193
- Clinvar variants
- Variants in REC8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rec8 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rec8 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: REC8 was added gene: REC8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REC8 were set to 34794894; 15515002; 34707299 Phenotypes for gene: REC8 were set to Primary ovarian insufficiency Review for gene: REC8 was set to AMBER