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| Mitochondrial disease v0.1024 | MT-ND3 | Zornitza Stark Phenotypes for gene: MT-ND3 were changed from Complex I deficiency to Mitochondrial disease (MONDO:0044970), MT-ND3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1023 | MT-ND3 | Zornitza Stark Publications for gene: MT-ND3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1022 | MT-ND3 |
Zornitza Stark edited their review of gene: MT-ND3: 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.; Changed publications: 1928099, 14705112, 14764913, 17152068, 20202874, 25118196, 25384404, 11456298, 19458970, 30199507, 29237403; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND3-related |
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| Mitochondrial disease v0.377 | MT-ND3 | Zornitza Stark Tag mtDNA tag was added to gene: MT-ND3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.377 | MT-ND3 | Zornitza Stark Marked gene: MT-ND3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.377 | MT-ND3 | Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.377 | MT-ND3 | Zornitza Stark Classified gene: MT-ND3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.377 | MT-ND3 | Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.376 | MT-ND3 |
Zornitza Stark gene: MT-ND3 was added gene: MT-ND3 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND3 were set to Complex I deficiency Review for gene: MT-ND3 was set to GREEN Added comment: Sources: Expert list |
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