| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.286 | TFAM | Zornitza Stark Marked gene: TFAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.286 | TFAM | Zornitza Stark Gene: tfam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.286 | TFAM | Zornitza Stark Phenotypes for gene: TFAM were changed from to Perrault syndrome; primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.285 | TFAM | Zornitza Stark Publications for gene: TFAM were set to PMID: 34647195 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.284 | TFAM | Zornitza Stark Classified gene: TFAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.284 | TFAM | Zornitza Stark Gene: tfam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.283 | TFAM | Elena Tucker reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34647195, 32399598; Phenotypes: Perrault syndrome, primary ovarian insufficiency +/- seizures/intellectual disability/hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.283 | TFAM |
Elena Tucker gene: TFAM was added gene: TFAM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFAM were set to PMID: 34647195 Penetrance for gene: TFAM were set to Complete |
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