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| Adult onset neurodegenerative disorder v9.1 | SLC5A7 |
Oliver Ziff gene: SLC5A7 was added gene: SLC5A7 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC5A7 were set to 29782645; 23141292 Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA Penetrance for gene: SLC5A7 were set to Complete Mode of pathogenicity for gene: SLC5A7 was set to Other Review for gene: SLC5A7 was set to GREEN gene: SLC5A7 was marked as current diagnostic Added comment: Dominant negative variants cause a distal hereditary motor neuropathy (dHMN7A) mimicking progressive isolated LMN degeneration. mimics LMN-predominant MND, necessitating upfront screening. Inclusion prevents sequential WGS reanalysis on R460.1 requests. Sources: Expert Review, Literature |
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