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| Hereditary neuropathy or pain disorder v8.33 | MRPS34 |
Alexander Rossor gene: MRPS34 was added gene: MRPS34 was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS34 were set to 41506652 Phenotypes for gene: MRPS34 were set to Cerebellar ataxia, distal motor neuropathy; pyramidal syndrome; leukoencephalopathy on brain MRI; Treatment with oral folinic acid Review for gene: MRPS34 was set to AMBER Added comment: One case associated with neuropathy. A likely cause of neuropathy as multiple other cerebral folate gene variants also causing neuropathy as part of extended phenotype. Certainly not green at this stage but no good evidence it isn't pathogenic so should not be downgraded to red Sources: Other |
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