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| Mitochondrial disease v0.1037 | MT-TA | Zornitza Stark Phenotypes for gene: MT-TA were changed from Mitochondrial myopathy to Mitochondrial disease (MONDO:0044970), MT-TA-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1036 | MT-TA | Zornitza Stark Publications for gene: MT-TA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1035 | MT-TA |
Zornitza Stark edited their review of gene: MT-TA: Added comment: DEFINITIVE by ClinGen. More than 5 individuals reported. Variable age of onset. Features in affected individuals included myopathy (weakness, exercise intolerance), ptosis, ophthalmoplegia, lipomas, and hearing loss. Muscle biopsies showed ragged red fibers and COX-negative fibers, as well as respiratory chain enzyme deficiencies. Heteroplasmy levels in affected individuals tended to be highest in muscle when multiple tissues were assessed and were variable in other tissues when tested.; Changed publications: 11715067, 17825557, 14569122, 27014581, 20813205, 25873012, 16476954; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TA-related |
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| Mitochondrial disease v0.389 | MT-TA | Zornitza Stark Marked gene: MT-TA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.389 | MT-TA | Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.389 | MT-TA | Zornitza Stark Tag mtDNA tag was added to gene: MT-TA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.389 | MT-TA | Zornitza Stark Classified gene: MT-TA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.389 | MT-TA | Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.388 | MT-TA |
Zornitza Stark gene: MT-TA was added gene: MT-TA was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL Phenotypes for gene: MT-TA were set to Mitochondrial myopathy Review for gene: MT-TA was set to GREEN Added comment: Sources: Expert list |
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