| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 | ATG7 | Bryony Thompson Marked gene: ATG7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 | ATG7 | Bryony Thompson Gene: atg7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 | ATG7 | Bryony Thompson Classified gene: ATG7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.216 | ATG7 | Bryony Thompson Gene: atg7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.215 | ATG7 |
Bryony Thompson gene: ATG7 was added gene: ATG7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: ATG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATG7 were set to 34794894; 34161705; 30224786; 25590799 Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31 MIM#619422; primary ovarian insufficiency Review for gene: ATG7 was set to AMBER Added comment: PMID: 30224786 - a heterozygous missense (p.Phe403Leu) in a single proband with POI and in vitro functional assays supporting loss of function for the variant. PMID: 34161705 - one family with biallelic variants and SCAR31 had late-onset or no puberty, and another patient with SCAR31 from another family presented with hypogonadotropic hypogonadism and gynecomastia (2/5 families reported with endocrine features). PMID: 25590799 - germ cell-specific mouse Atg7 knockout recapitulates the human POI phenotype Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||