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| Mitochondrial disease v0.1052 | MT-TK |
Zornitza Stark edited their review of gene: MT-TK: Added comment: DEFINITIVE by ClinGen. Multiple individuals reported with wide spectrum of clinical presentations including MERRF, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh syndrome spectrum, and mitochondrial neurogastrointestinal encephalopathy (MNGIE), as well as lipomas, myopathy, hypertrophic cardiomyopathy, hearing loss, diabetes, and episodic ataxia. Variant pathogenicity is supported by cybrid analyses, single fiber studies, and respiratory chain studies showing clear evidence of OXPHOS defects.; Changed publications: 9380435, 19618438, 17410322, 25559684, 1361099, 10868777, 35821181, 36675808; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TK-related |
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| Mitochondrial disease v0.430 | MT-TK | Zornitza Stark Tag mtDNA tag was added to gene: MT-TK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.405 | MT-TK | Zornitza Stark Marked gene: MT-TK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.405 | MT-TK | Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.405 | MT-TK | Zornitza Stark Classified gene: MT-TK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.405 | MT-TK | Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.404 | MT-TK |
Zornitza Stark gene: MT-TK was added gene: MT-TK was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL Phenotypes for gene: MT-TK were set to MERRF; Encephalopathy; Deafness; Cardiomyopathy Review for gene: MT-TK was set to GREEN Added comment: Sources: Expert list |
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