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| Mitochondrial disease v0.1052 | MT-TI | Zornitza Stark Phenotypes for gene: MT-TI were changed from Mitochondrial myopathy; Encephalopathy to Mitochondrial disease (MONDO:0044970), MT-TI-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1051 | MT-TI | Zornitza Stark Publications for gene: MT-TI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1050 | MT-TI |
Zornitza Stark edited their review of gene: MT-TI: Added comment: DEFINITIVE by ClinGen. More than 10 individuals reported. Clinical presentations included LSS, myoclonic epilepsy with ragged red fibers (MERRF) and chronic progressive external ophthalmoplegia (CPEO), in addition to rhabdomyolysis, cardiomyopathy, encephalopathy, exercise intolerance, muscle weakness, hypertension2, hypercholesterolaemia, and hypomagnesaemia. Heteroplasmy levels of MT-TI can be variable in tissues from the same individual. In general, variants tend to be lower in tissues such as blood, saliva, and buccal swab and urine and muscle heteroplasmy levels tend to be higher.; Changed publications: 15121771, 21982779, 23395828, 16120360, 9473477, 12767666, 10065021, 7646516, 20884012, 21292040, 1632786, 23696415, 34607911; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TI-related |
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| Mitochondrial disease v0.403 | MT-TI | Zornitza Stark Marked gene: MT-TI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.403 | MT-TI | Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.403 | MT-TI | Zornitza Stark Tag mtDNA tag was added to gene: MT-TI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.403 | MT-TI | Zornitza Stark Classified gene: MT-TI as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.403 | MT-TI | Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.402 | MT-TI |
Zornitza Stark gene: MT-TI was added gene: MT-TI was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL Phenotypes for gene: MT-TI were set to Mitochondrial myopathy; Encephalopathy Review for gene: MT-TI was set to GREEN Added comment: Sources: Expert list |
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