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| Mitochondrial disease v0.1029 | MT-ND4L | Zornitza Stark Phenotypes for gene: MT-ND4L were changed from Leber's optic atrophy to Mitochondrial disease (MONDO:0044970), MT-ND4L-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1028 | MT-ND4L | Zornitza Stark Publications for gene: MT-ND4L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1027 | MT-ND4L | Zornitza Stark Classified gene: MT-ND4L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1027 | MT-ND4L | Zornitza Stark Gene: mt-nd4l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1026 | MT-ND4L |
Zornitza Stark edited their review of gene: MT-ND4L: Added comment: LIMITED by ClinGen. Seven probands with m.10063T>C have been reported across five publications, all of whom had LHON. These cases were scored with reduced points by ClinGen given the mild impact this variant has been shown to have on complex I function. While three other missense variants (m.10543A>G, m.10591T>G, m.10680G>A) have been reported, the ClinGen Expert Panel agreed there was only sufficient evidence of pathogenicity for the m.10663T>C variant. Cases with m.10680G>A and m.10543A>G and m.10591T>G were reviewed but excluded from scoring due to a lack of compelling functional evidence to support pathogenicity. The m.10543A>G variant has been modeled in E. coli and showed a very mild reduction in NADH dehydrogenase activity (74% of control), which was not sufficient to be included in scoring.; Changed rating: AMBER; Changed publications: 8680405, 11935318, 17003408, 22879922, 24568867; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND4L-related |
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| Mitochondrial disease v0.1026 | MT-ND4 | Zornitza Stark Phenotypes for gene: MT-ND4 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia to Mitochondrial disease (MONDO:0044970), MT-ND4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1025 | MT-ND4 | Zornitza Stark Publications for gene: MT-ND4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1024 | MT-ND4 |
Zornitza Stark commented on gene: MT-ND4: DEFINITIVE by ClinGen. Multiple individuals reported presenting with a broad phenotypic spectrum of clinical features including Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); LSS; cerebellar ataxia, migraines, regression, developmental delay, leukoencephalopathy, myoclonus, seizures, stroke-like episodes, cognitive decline, psychiatric illness, Parkinsonism, axonal neuropathy, multiple sclerosis, ophthalmoplegia, short stature, and hypertrophic cardiomyopathy. Age of onset varied from infancy to adulthood. Muscle biopsy showed COX-negative fibers and complex I deficiency. Heteroplasmy levels in affected individuals ranged from 60% - 83% in muscle, 40% - 80% in blood, and 76% - 78% in myoblasts, as well as from 57% - 73% in various other tissues (fibroblasts, liver, urine, buccal). Of note, the m.11778G>A common LHON variant was reported in affected individuals in the homoplasmic and heteroplasmic states. |
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| Mitochondrial disease v0.1024 | MT-ND4 | Zornitza Stark edited their review of gene: MT-ND4: Changed publications: 12707444, 16120329, 15576045, 20502985, 27761019, 32445240, 32659360, 3201231; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | MT-ND4L | Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.381 | MT-ND4L | Zornitza Stark Marked gene: MT-ND4L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.381 | MT-ND4L | Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.381 | MT-ND4L | Zornitza Stark Classified gene: MT-ND4L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.381 | MT-ND4L | Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.380 | MT-ND4L |
Zornitza Stark gene: MT-ND4L was added gene: MT-ND4L was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4L were set to Leber's optic atrophy Review for gene: MT-ND4L was set to GREEN Added comment: Sources: Expert list |
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| Mitochondrial disease v0.379 | MT-ND4 | Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.379 | MT-ND4 | Zornitza Stark Marked gene: MT-ND4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.379 | MT-ND4 | Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.379 | MT-ND4 | Zornitza Stark Classified gene: MT-ND4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.379 | MT-ND4 | Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.378 | MT-ND4 |
Zornitza Stark gene: MT-ND4 was added gene: MT-ND4 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia Review for gene: MT-ND4 was set to GREEN Added comment: Sources: Expert list |
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