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| Adult onset neurodegenerative disorder v9.1 | MORC2 |
Oliver Ziff gene: MORC2 was added gene: MORC2 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MORC2 were set to 26497905; 26659848 Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Penetrance for gene: MORC2 were set to Complete Mode of pathogenicity for gene: MORC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MORC2 was set to GREEN gene: MORC2 was marked as current diagnostic Added comment: Causes CMT2Z. Presents with prominent SMA-like proximal and distal weakness in adults, mimicking PMA. Needs inclusion in R460.1 to avoid R78 reanalysis. Sources: Expert Review, Literature |
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