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| Mendeliome v1.3184 | MT-TA | Zornitza Stark Marked gene: MT-TA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3184 | MT-TA | Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3184 | MT-TA | Zornitza Stark Classified gene: MT-TA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3184 | MT-TA | Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3183 | MT-TA |
Zornitza Stark gene: MT-TA was added gene: MT-TA was added to Mendeliome. Sources: Expert list Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL Publications for gene: MT-TA were set to 11715067; 17825557; 14569122; 27014581; 20813205; 25873012; 16476954 Phenotypes for gene: MT-TA were set to Mitochondrial disease (MONDO:0044970), MT-TA-related Review for gene: MT-TA was set to GREEN 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. Sources: Expert list |
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