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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.397 | TYMP | Zornitza Stark Marked gene: TYMP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.397 | TYMP | Zornitza Stark Gene: tymp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.397 | TYMP | Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE); POI; MITOCHONDRIAL DNA DEPLETION SYNDROME 1 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.396 | TYMP | Zornitza Stark Classified gene: TYMP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.396 | TYMP | Zornitza Stark Gene: tymp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.395 | TYMP | Zornitza Stark reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.394 | TYMP |
Elena Tucker gene: TYMP was added gene: TYMP was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to PMID: 41163431; PMID: 35341481 Phenotypes for gene: TYMP were set to Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE); POI; MITOCHONDRIAL DNA DEPLETION SYNDROME 1 Penetrance for gene: TYMP were set to Complete Review for gene: TYMP was set to AMBER Added comment: Two independent cases of POI in the literature associated with pathogenic TYMP variants and MNGIE disease (and additionally, cases of hypergonadotropic hypogonadism in males). Mitochondrial depletion is a known mechanism for POI. POI can present before overt neurological involvement. Sources: Literature |
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