| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.142 | MT-TL1 | Bryony Thompson Marked gene: MT-TL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.142 | MT-TL1 | Bryony Thompson Gene: mt-tl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.142 | MT-TL1 | Bryony Thompson Classified gene: MT-TL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.142 | MT-TL1 | Bryony Thompson Gene: mt-tl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.141 | MT-TL1 |
Bryony Thompson gene: MT-TL1 was added gene: MT-TL1 was added to Ataxia. Sources: Literature Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to 40787093; 40707189; 37311680; 36684660; 35869996; 32821290; 32357846; 32357846; 29430542; 28458318 Phenotypes for gene: MT-TL1 were set to MERRF syndrome, MONDO:0010790; Mitochondrial disease, MONDO:0044970 Review for gene: MT-TL1 was set to GREEN Added comment: MELAS syndrome with cerebellar ataxia, stroke‑like episodes and lactic acidosis—Bogdan2022 reports 1 family, PMID 32357846 reports 1 family, PMID 40707189 reports 1 family and PMID 28458318 reports 1 family (total 4 families, 4 independent). MELAS/Kearns–Sayre overlap syndrome with progressive cerebellar ataxia, myoclonus epilepsy and ophthalmoplegia—Yu2018 reports 1 family (1 independent). Adult‑onset cerebellar ataxia with diabetes mellitus and sensorineural hearing loss—Liao2023 reports 2 families (1 independent) carrying the recurrent m.3243A>G variant. Wernicke‑Korsakoff syndrome with gait ataxia, memory loss and thalamic/mammillary lesions—Jimoh2020 reports 1 family (1 independent). MERRF syndrome with myoclonic epilepsy, ataxia, proximal limb weakness, cerebellar atrophy and ragged‑red fibres—Huang2023 reports 1 family (1 independent). Mitochondrial disease with cerebellar ataxia, progressive myopathy, seizures and nephrotic syndrome—Gillespie2025 reports 1 family (1 independent). These mitochondrial disease phenotypes frequently include cerebellar ataxia, aligning with the Ataxia panel's focus on disorders where ataxia is a prominent feature; therefore MT‑TL1 is appropriate for inclusion as a diagnostic‑grade gene on this panel. Sources: Literature |
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