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| Mitochondrial disease v0.1056 | MT-TL2 | Zornitza Stark Publications for gene: MT-TL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1055 | MT-TL2 | Zornitza Stark Phenotypes for gene: MT-TL2 were changed from Myopathy; Cardiomyopathy; Encephalomyopathy to Mitochondrial disease (MONDO:0044970), MT-TL2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1054 | MT-TL2 |
Zornitza Stark edited their review of gene: MT-TL2: Added comment: DEFINITIVE by ClinGen. Multiple individuals reported with a range of clinical phenotypes, including CPEO, retinopathy, hearing loss, myopathy, exercise intolerance, and peripheral neuropathy. There is a substantial amount of functional evidence for the reported variants, including numerous single fiber studies, and respiratory chain analyses showing clear evidence of OXPHOS defects; Changed publications: 8923013, 12398839, 19718780, 18977334, 21819490, 15649400, 15591266, 23847141, 20022607, 29052516; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TL2-related |
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| Mitochondrial disease v0.409 | MT-TL2 | Zornitza Stark Marked gene: MT-TL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.409 | MT-TL2 | Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.409 | MT-TL2 | Zornitza Stark Tag mtDNA tag was added to gene: MT-TL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.409 | MT-TL2 | Zornitza Stark Classified gene: MT-TL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.409 | MT-TL2 | Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.408 | MT-TL2 |
Zornitza Stark gene: MT-TL2 was added gene: MT-TL2 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL Phenotypes for gene: MT-TL2 were set to Myopathy; Cardiomyopathy; Encephalomyopathy Review for gene: MT-TL2 was set to GREEN Added comment: Sources: Expert list |
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