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| Adult onset neurodegenerative disorder v9.1 | ATP7A |
Oliver Ziff gene: ATP7A was added gene: ATP7A was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ATP7A were set to 20170900 Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, X-linked 3, distal, OMIM:300489 Penetrance for gene: ATP7A were set to Complete Mode of pathogenicity for gene: ATP7A was set to Other Review for gene: ATP7A was set to GREEN gene: ATP7A was marked as current diagnostic Added comment: Specific missense variants cause X-linked distal motor neuropathy (SMAX3), mimicking adult LMN disease without systemic Menkes features. Needs inclusion in R460.1 to prevent R78 reanalysis. Sources: Expert Review, Literature |
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