| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 | TUFM | Ain Roesley Marked gene: TUFM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 | TUFM | Ain Roesley Gene: tufm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 | TUFM | Ain Roesley edited their review of gene: TUFM: Changed publications: 37461298 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 | TUFM |
Ain Roesley gene: TUFM was added gene: TUFM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUFM were set to 37468454 Phenotypes for gene: TUFM were set to Inherited primary ovarian failure MONDO:0019852, TUFM-related Review for gene: TUFM was set to RED gene: TUFM was marked as current diagnostic Added comment: 1 family with 1 homozygote with NM_172745.3:c.524G>C: p.Gly175Ala) in vitro functional: reduction in protein expression, decreased mitochondrial membrane potential and increased reactive oxygen species production, inhibits OXPHOS activity and results in impaired autophagy activation mouse models recapitulates phenotype Sources: Literature |
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