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| Mendeliome v1.3172 | MT-ND3 | Zornitza Stark Marked gene: MT-ND3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3172 | MT-ND3 | Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3172 | MT-ND3 | Zornitza Stark Classified gene: MT-ND3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3172 | MT-ND3 | Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3171 | MT-ND3 |
Zornitza Stark gene: MT-ND3 was added gene: MT-ND3 was added to Mendeliome. Sources: Expert list mtDNA tags were added to gene: MT-ND3. Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL Publications for gene: MT-ND3 were set to 1928099; 14705112; 14764913; 17152068; 20202874; 25118196; 25384404; 11456298; 19458970; 30199507; 29237403 Phenotypes for gene: MT-ND3 were set to Mitochondrial disease (MONDO:0044970), MT-ND3-related Review for gene: MT-ND3 was set to GREEN Added comment: DEFINITIVE by ClinGen. More than 15 affected individuals reported. Three variants are recurrent (m.10158T>C, m.10191T>C, m.10197G>A). Affected individuals present with a broad phenotypic spectrum of clinical features including LSS; Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); lactic acidosis, epilepsia partialis continua (EPC), epileptic encephalopathy, dystonia, and optic atrophy. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsy showed and complex I deficiency. Sources: Expert list |
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