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| Adult onset neurodegenerative disorder v9.1 | IGHMBP2 |
Oliver Ziff gene: IGHMBP2 was added gene: IGHMBP2 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: IGHMBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IGHMBP2 were set to 26392352; 34726235 Phenotypes for gene: IGHMBP2 were set to Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320 Penetrance for gene: IGHMBP2 were set to Incomplete Mode of pathogenicity for gene: IGHMBP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added comment: Causes a slowly progressive adult-onset distal SMA. Phenotypically overlaps with LMN-variant MND. Needs inclusion in R460.1 ALS panel to avoid R78 reanalysis. Sources: Expert Review, Literature |
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