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| Adult onset neurodegenerative disorder v9.1 | UBA1 |
Oliver Ziff gene: UBA1 was added gene: UBA1 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: UBA1 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: UBA1 were set to 18179898; 31932168; 26456228; 27797960; 35919735; 33108101 Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, OMIM:301830 Penetrance for gene: UBA1 were set to Complete Mode of pathogenicity for gene: UBA1 was set to Other Review for gene: UBA1 was set to GREEN gene: UBA1 was marked as current diagnostic Added comment: Germline UBA1 variants cause SMAX2, an anterior horn cell disorder that presents with progressive lower motor neuron degeneration. It is a direct clinical and biological mimic of PMA/LMN-variant ALS and should be included on the MND panel to prevent diagnostic misses. Needs inclusion in R460.1 Sources: Expert Review, Literature |
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