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| Mendeliome v1.3216 | MT-TR | Zornitza Stark Marked gene: MT-TR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3216 | MT-TR | Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3216 | MT-TR | Zornitza Stark Classified gene: MT-TR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3216 | MT-TR | Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3215 | MT-TR |
Zornitza Stark gene: MT-TR was added gene: MT-TR was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-TR. Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL Publications for gene: MT-TR were set to 15286228; 17588757; 19809478; 22781096 Phenotypes for gene: MT-TR were set to mitochondrial disease (MONDO:0044970), MT-TR-related Review for gene: MT-TR was set to GREEN Added comment: MODERATE by ClinGen. At least 4 individuals reported. Cybrid studies and single fiber testing further supported the pathogenicity of several of the reported variants. Age of onset was in childhood and features seen in affected individuals included muscle weakness, ataxia, hypotonia, epilepsy, global developmental delay and regression, pigmentary retinopathy, optic atrophy, renal insufficiency, and hypertrophic cardiomyopathy. Muscle biopsies showed ragged red fibers and COX-negative fibers and variable respiratory chain enzyme deficiencies. Sources: Expert list |
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