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| Mendeliome v1.3199 | MT-TI | Zornitza Stark Marked gene: MT-TI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3199 | MT-TI | Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3199 | MT-TI | Zornitza Stark Classified gene: MT-TI as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3199 | MT-TI | Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3198 | MT-TI |
Zornitza Stark gene: MT-TI was added gene: MT-TI was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-TI. Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL Publications for gene: MT-TI were set to 15121771; 21982779; 23395828; 16120360; 9473477; 12767666; 10065021; 7646516; 20884012; 21292040; 1632786; 23696415; 34607911 Phenotypes for gene: MT-TI were set to Mitochondrial disease (MONDO:0044970), MT-TI-related Review for gene: MT-TI was set to GREEN 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. Sources: Expert list |
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