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| Mitochondrial disease v0.1033 | MT-ND6 | Zornitza Stark Phenotypes for gene: MT-ND6 were changed from Mitochondrial cardiomyopathy complex I deficiency; Leber's optic neuropathy; MELAS; Dystonia; Striatal necrosis, bilateral to Mitochondrial disease (MONDO:0044970), MT-ND6-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1032 | MT-ND6 | Zornitza Stark Publications for gene: MT-ND6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1031 | MT-ND6 |
Zornitza Stark edited their review of gene: MT-ND6: Added comment: DEFINITIVE by ClinGen. More than 20 affected individuals reported, the m.14484T>C and m.14487T>C variants are recurrent. Affected individuals present with a broad phenotypic spectrum of disease including Leber Hereditary Optic Neuropathy (LHON), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), and LSS phenotypes, as well as migraines, tremor, multiple sclerosis, and cardiac involvement. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsies revealed isolated complex I deficiency, and complex I and III deficiencies; and complex I deficiency was also seen in fibroblasts and liver. Metabolic screening investigations showed elevated lactate and pyruvate in cerebrospinal fluid (CSF) and blood. Heteroplasmy levels in affected individuals ranged from 50% to >95% in skeletal muscle; 25% to >95% in blood, 76% to >95% in fibroblasts, and 65% to >95% in liver; and ranged in healthy family members from undetectable to 92% in blood, undetectable to 95% in urine, 14% to 95% in hair follicles, 16% to 68% in buccal, and was undetectable in muscle in healthy family members.; Changed publications: 5576045, 20019223, 21196529, 10894222, 14684687, 17535832, 19103152, 21749722, 23813926, 25356405, 14595656, 19062322, 11133798, 30741831, 21364701, 2018041; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND6-related |
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| Mitochondrial disease v0.430 | MT-ND6 | Zornitza Stark Tag mtDNA tag was added to gene: MT-ND6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.385 | MT-ND6 | Zornitza Stark Marked gene: MT-ND6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.385 | MT-ND6 | Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.385 | MT-ND6 | Zornitza Stark Classified gene: MT-ND6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.385 | MT-ND6 | Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.384 | MT-ND6 |
Zornitza Stark gene: MT-ND6 was added gene: MT-ND6 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND6 were set to Mitochondrial cardiomyopathy complex I deficiency; Leber's optic neuropathy; MELAS; Dystonia; Striatal necrosis, bilateral Review for gene: MT-ND6 was set to GREEN Added comment: Sources: Expert list |
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