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| Mendeliome v1.3222 | MT-TT | Zornitza Stark Marked gene: MT-TT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3222 | MT-TT | Zornitza Stark Gene: mt-tt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3222 | MT-TT | Zornitza Stark Classified gene: MT-TT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3222 | MT-TT | Zornitza Stark Gene: mt-tt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3221 | MT-TT |
Zornitza Stark gene: MT-TT was added gene: MT-TT was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-TT. Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL Publications for gene: MT-TT were set to 32083134; 8769114; 9367299; 1645537; 8511015; 22638997; 29760464; 30236074; 28187756; 35808913 Phenotypes for gene: MT-TT were set to Mitochondrial disease (MONDO:0044970), MT-TT-related Review for gene: MT-TT was set to GREEN Added comment: MODERATE by ClinGen. At least 10 probands reported with 5 unique variants. Age of onset in affected individuals varied from the neonatal period to more than 50 years. Clinical features in affected individuals included neonatal lactic acidosis; myoclonic epilepsy and ragged red fibers (MERRF); Leber Hereditary Optic Neuropathy (LHON); myopathy, seizures, migraines, pigmentary retinopathy, hearing loss, and diabetes. Brain imaging findings were variable. Muscle biopsies showed ragged red fibers and COX-deficient fibers. Lab investigations showed elevated lactate. Heteroplasmy levels were highest in muscle when multiple tissues were assessed, and ranged from 33% to homoplasmy in muscle. Sources: Expert list |
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