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| Mitochondrial disease v0.1067 | MT-TS1 | Zornitza Stark Phenotypes for gene: MT-TS1 were changed from MERRF; MELAS; Deafness to Mitochondrial disease (MONDO:0044970), MT-TS1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1066 | MT-TS1 | Zornitza Stark Publications for gene: MT-TS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1065 | MT-TS1 |
Zornitza Stark edited their review of gene: MT-TS1: 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.; Changed publications: 7669057, 9778262, 14605505, 23696415, 33279600, 7581383; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TS1-related |
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| Mitochondrial disease v0.421 | MT-TS1 | Zornitza Stark Marked gene: MT-TS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.421 | MT-TS1 | Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.421 | MT-TS1 | Zornitza Stark Tag mtDNA tag was added to gene: MT-TS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.421 | MT-TS1 | Zornitza Stark Classified gene: MT-TS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.421 | MT-TS1 | Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.420 | MT-TS1 |
Zornitza Stark gene: MT-TS1 was added gene: MT-TS1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL Phenotypes for gene: MT-TS1 were set to MERRF; MELAS; Deafness Review for gene: MT-TS1 was set to GREEN Added comment: Sources: Expert list |
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