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| Adult onset neurodegenerative disorder v9.1 | TRPV4 |
Oliver Ziff gene: TRPV4 was added gene: TRPV4 was added to Adult onset neurodegenerative disorder. Sources: Literature,Expert Review Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV4 were set to 20037586 Phenotypes for gene: TRPV4 were set to Hereditary motor and sensory neuropathy, type IIc, 606071 Penetrance for gene: TRPV4 were set to Complete Mode of pathogenicity for gene: TRPV4 was set to Other Review for gene: TRPV4 was set to GREEN gene: TRPV4 was marked as current diagnostic Added comment: Causes scapuloperoneal SMA and dHMN. The progressive motor weakness frequently mimics LMN-predominant MND, necessitating upfront R460.1 screening. Inclusion prevents sequential WGS reanalysis on R460.1 requests. Sources: Literature, Expert Review |
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