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| Mendeliome v1.3206 | MT-TL2 | Zornitza Stark Marked gene: MT-TL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3206 | MT-TL2 | Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3206 | MT-TL2 | Zornitza Stark Classified gene: MT-TL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3206 | MT-TL2 | Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3205 | MT-TL2 |
Zornitza Stark gene: MT-TL2 was added gene: MT-TL2 was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-TL2. Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL Publications for gene: MT-TL2 were set to 8923013; 12398839; 19718780; 18977334; 21819490; 15649400; 15591266; 23847141; 20022607; 29052516 Phenotypes for gene: MT-TL2 were set to Mitochondrial disease (MONDO:0044970), MT-TL2-related Review for gene: MT-TL2 was set to GREEN Added comment: DEFINITIVE by ClinGen. Multiple individuals reported with a range of clinical phenotypes, including CPEO, retinopathy, hearing loss, myopathy, exercise intolerance, and peripheral neuropathy. There is a substantial amount of functional evidence for the reported variants, including numerous single fiber studies, and respiratory chain analyses showing clear evidence of OXPHOS defects Sources: Expert list |
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