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| Mendeliome v1.3202 | MT-TK | Zornitza Stark edited their review of gene: MT-TK: Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TK-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3202 | MT-TK | Zornitza Stark Phenotypes for gene: MT-TK were changed from Mitochondrial disease (MONDO:0044970), MT-TK-relatednd to Mitochondrial disease (MONDO:0044970), MT-TK-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3201 | MT-TK | Zornitza Stark Marked gene: MT-TK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3201 | MT-TK | Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3201 | MT-TK | Zornitza Stark Classified gene: MT-TK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3201 | MT-TK | Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3200 | MT-TK |
Zornitza Stark gene: MT-TK was added gene: MT-TK was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-TK. Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL Publications for gene: MT-TK were set to 9380435; 19618438; 17410322; 25559684; 1361099; 10868777; 35821181; 36675808 Phenotypes for gene: MT-TK were set to Mitochondrial disease (MONDO:0044970), MT-TK-relatednd Review for gene: MT-TK was set to GREEN 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. Sources: Expert list |
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