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| Mendeliome v1.3170 | MT-ND2 | Zornitza Stark Marked gene: MT-ND2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3170 | MT-ND2 | Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3170 | MT-ND2 | Zornitza Stark Classified gene: MT-ND2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3170 | MT-ND2 | Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3169 | MT-ND2 |
Zornitza Stark gene: MT-ND2 was added gene: MT-ND2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL Publications for gene: MT-ND2 were set to 26258512; 16738010; 15781840; 12192017 Phenotypes for gene: MT-ND2 were set to Mitochondrial disease (MONDO:0044970), MT-ND2-related Review for gene: MT-ND2 was set to GREEN 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. Sources: Expert list |
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