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| Adult onset neurodegenerative disorder v9.1 | PLEKHG5 |
Oliver Ziff gene: PLEKHG5 was added gene: PLEKHG5 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG5 were set to 23844677; 17564964 Phenotypes for gene: PLEKHG5 were set to Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Penetrance for gene: PLEKHG5 were set to Complete Mode of pathogenicity for gene: PLEKHG5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added comment: Causes a late-onset distal hereditary motor neuropathy and SMA with progressive LMN signs that mimic PMA. Inclusion prevents sequential WGS reanalysis on R460.1 requests. Sources: Expert Review, Literature |
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