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| Hereditary neuropathy or pain disorder v8.31 | COL6A3 |
Alexander Rossor gene: COL6A3 was added gene: COL6A3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to 42520849 Phenotypes for gene: COL6A3 were set to motor neuropathy; myopathy Mode of pathogenicity for gene: COL6A3 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: COL6A3 was set to GREEN Added comment: Case series of 35 patients showing evidence of both a peripheral motor neuropathy and myopathy Sources: Expert list |
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