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| Mitochondrial disease v0.1109 | MT-ND1 |
Zornitza Stark commented on gene: MT-ND1: DEFINITIVE by ClinGen. There were four recurrent variants (m.3697G>A, m.3890G>A, m.3635G>A, m.3902_3908delinsGCAAGGT). 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), Leigh syndrome, and exercise intolerance phenotypes. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsies variably reveal focal subsarcolemmal accumulation of mitochondria, ragged red fibers, and isolated complex I deficiency. |
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| Mitochondrial disease v0.1020 | MT-ND1 | Zornitza Stark Phenotypes for gene: MT-ND1 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1019 | MT-ND1 | Zornitza Stark Publications for gene: MT-ND1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1018 | MT-ND1 | Zornitza Stark edited their review of gene: MT-ND1: Added comment: Multiple individuals reported with variants in this gene and a range of phenotypes consistent with mitochondrial disease, including LHON and Leigh syndrome.; Changed publications: 39147111, 36717040, 34656796; Changed phenotypes: Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.373 | MT-ND1 | Zornitza Stark Marked gene: MT-ND1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.373 | MT-ND1 | Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.373 | MT-ND1 | Zornitza Stark Tag mtDNA tag was added to gene: MT-ND1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.373 | MT-ND1 | Zornitza Stark Classified gene: MT-ND1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.373 | MT-ND1 | Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.372 | MT-ND1 |
Zornitza Stark gene: MT-ND1 was added gene: MT-ND1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND1 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia Review for gene: MT-ND1 was set to GREEN Added comment: Sources: Expert list |
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