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| Mendeliome v1.3218 | MT-TS1 | Zornitza Stark Marked gene: MT-TS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3218 | MT-TS1 | Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3218 | MT-TS1 | Zornitza Stark Classified gene: MT-TS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3218 | MT-TS1 | Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3217 | MT-TS1 |
Zornitza Stark gene: MT-TS1 was added gene: MT-TS1 was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-TS1. Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL Publications for gene: MT-TS1 were set to 7669057; 9778262; 14605505; 23696415; 33279600; 7581383 Phenotypes for gene: MT-TS1 were set to Mitochondrial disease (MONDO:0044970), MT-TS1-related Review for gene: MT-TS1 was set to GREEN Added comment: DEFINITIVE by ClinGen. At least 8 individuals reported. Clinical features seen in affected individuals range from isolated hearing loss to mitochondrial myopathy to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and myoclonus epilepsy, ragged red fibers (MERRF). One case of fatal neonatal lactic acidosis has been reported. Intrafamilial variability has been observed. Muscle biopsy often shows COX-negative fibers and/or ragged red fibers. A combined mitochondrial chain respiratory deficiency (commonly involving complexes I and IV) may also be observed in muscle biopsies. Heteroplasmy levels in affected individuals are often near homoplasmy in muscle and lower in tissues such as blood and urine, although homoplasmy across multiple tissues has also been seen. One individual had mitochondrial myopathy with heteroplasmy levels as low as 37% heteroplasmy in muscle. Multiple single fiber studies and cybrid analyses were performed in these patients and are supportive of variant pathogenicity. Sources: Expert list |
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