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| Mitochondrial disease v0.1054 | MT-TL1 | Zornitza Stark Phenotypes for gene: MT-TL1 were changed from MELAS to Mitochondrial disease (MONDO:0044970), MT-TL1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1053 | MT-TL1 | Zornitza Stark Publications for gene: MT-TL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1052 | MT-TL1 |
Zornitza Stark edited their review of gene: MT-TL1: Added comment: DEFINITIVE by ClinGen. Multiple individuals reported with a range of clinical presentations, including MELAS, myoclonus epilepsy, ragged red fibers (MERRF), Leigh syndrome spectrum, progressive external ophthalmoplegia (PEO), and maternally inherited deafness and diabetes (MIDD), as well as myopathy, hypertrophic cardiomyopathy, and renal disease. At least 7 unique variants reported with a substantial amount of functional evidence, including numerous cybrid analyses, single fiber studies, and respiratory chain analyses showing clear evidence of OXPHOS defects.; Changed publications: 9323566, 12221518, 20471262, 23220830, 23273904, 24338029, 23582502, 11271374, 23258140; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TL1-related |
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| Mitochondrial disease v0.407 | MT-TL1 | Zornitza Stark Marked gene: MT-TL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.407 | MT-TL1 | Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.407 | MT-TL1 | Zornitza Stark Tag mtDNA tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.407 | MT-TL1 | Zornitza Stark Classified gene: MT-TL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.407 | MT-TL1 | Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.406 | MT-TL1 |
Zornitza Stark gene: MT-TL1 was added gene: MT-TL1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Phenotypes for gene: MT-TL1 were set to MELAS Review for gene: MT-TL1 was set to GREEN Added comment: Sources: Expert list |
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