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| Hereditary neuropathy or pain disorder v3.60 | MT-ND6 |
Dmitrijs Rots gene: MT-ND6 was added gene: MT-ND6 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Publications for gene: MT-ND6 were set to PMID: 20301353 Phenotypes for gene: MT-ND6 were set to LHON; peripheral neuropathy Penetrance for gene: MT-ND6 were set to unknown Mode of pathogenicity for gene: MT-ND6 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MT-ND6 was set to GREEN Added comment: Gene is associated with LHON, but GeneReviews states: "Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. ". Identified in our lab in a young patient with peripheral neuropathy phenotype only. Sources: Literature |
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