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| Mendeliome v1.3228 | MT-TY | Zornitza Stark Marked gene: MT-TY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3228 | MT-TY | Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3228 | MT-TY | Zornitza Stark Classified gene: MT-TY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3228 | MT-TY | Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3227 | MT-TY |
Zornitza Stark gene: MT-TY was added gene: MT-TY was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-TY. Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL Publications for gene: MT-TY were set to 11071502; 11756614; 11594340; 33279411; 30643656; 32684384; 32485333; 33279411 Phenotypes for gene: MT-TY were set to Mitochondrial disease (MONDO:0044970), MT-TY-related Review for gene: MT-TY was set to GREEN Added comment: DEFINITIVE by ClinGen. Multiple individuals reported. Age of onset in affected individuals is variable and clinical features seen include myopathy with or without ophthalmoplegia. There is at least one case report with a more severe phenotype with neuropathy, ataxia, seizures, myoclonus, sensorineural hearing loss, and pigmentary retinopathy. Muscle biopsy in affected individuals has shown COX-negative and ragged red fibers, with variable mitochondrial respiratory chain enzyme deficiencies. The variants in affected individuals are often present at highest heteroplasmy levels in muscle and may be undetectable in other tissues such as blood and buccal tissue. Multiple single fiber studies were performed in these patients and supportive of variant pathogenicity Sources: Expert list |
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