| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.140 | MT-TK | Bryony Thompson Marked gene: MT-TK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.140 | MT-TK | Bryony Thompson Gene: mt-tk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.140 | MT-TK | Bryony Thompson Classified gene: MT-TK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.140 | MT-TK | Bryony Thompson Gene: mt-tk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.139 | MT-TK |
Bryony Thompson gene: MT-TK was added gene: MT-TK was added to Ataxia. Sources: Literature Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL Publications for gene: MT-TK were set to 34025555; 32538863; 29756269; 26995359; 25559684 Phenotypes for gene: MT-TK were set to MERRF syndrome, MONDO:0010790; Mitochondrial disease, MONDO:0044970 Review for gene: MT-TK was set to GREEN Added comment: Variants in MT‑TK cause mitochondrial disease, most prominently MERRF syndrome, in which cerebellar ataxia is a frequent manifestation, and have also been reported in a rare MELAS/LS overlap presentation. MERRF syndrome (mitochondrial disease with myoclonus, epilepsy, myopathy, cardiac involvement and ataxia) is associated with the heteroplasmic m.8344A>G mt‑tRNA Lys mutation in 26 independent families (56 patients) across Italian, German, Chinese and other cohorts; the phenotype includes cerebellar ataxia in a majority of cases. Sources: Literature |
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