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| Mitochondrial disease v0.1022 | MT-ND2 | Zornitza Stark Phenotypes for gene: MT-ND2 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy to Mitochondrial disease (MONDO:0044970), MT-ND2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1021 | MT-ND2 | Zornitza Stark Publications for gene: MT-ND2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1020 | MT-ND2 | Zornitza Stark edited their review of gene: MT-ND2: Added comment: MODERATE by ClinGen. Multiple individuals reported. Age of onset in affected individuals ranged from 9 months old to childhood. Clinical features in affected individuals included Leigh syndrome spectrum, myopathy, ophthalmoplegia, and ptosis. Muscle biopsies revealed ragged red fibers and complex I deficiency. Metabolic screening labs showed elevated lactate and creatine kinase (CK). Heteroplasmy levels were >95% in blood, fibroblasts, and muscle in the individual with Leigh syndrome spectrum. However in the other two individuals with predominantly myopathic features, the variant was present at >94% in muscle and undetectable in other tissues tested.; Changed publications: 26258512, 16738010, 15781840, 12192017; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.430 | MT-ND2 | Zornitza Stark Tag mtDNA tag was added to gene: MT-ND2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.375 | MT-ND2 | Zornitza Stark Marked gene: MT-ND2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.375 | MT-ND2 | Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.375 | MT-ND2 | Zornitza Stark Classified gene: MT-ND2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.375 | MT-ND2 | Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.374 | MT-ND2 |
Zornitza Stark gene: MT-ND2 was added gene: MT-ND2 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND2 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy Review for gene: MT-ND2 was set to GREEN Added comment: Sources: Expert list |
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