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| Adult onset neurodegenerative disorder v9.1 | HSPB1 |
Oliver Ziff gene: HSPB1 was added gene: HSPB1 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPB1 were set to 15122254; 28379183 Phenotypes for gene: HSPB1 were set to Neuropathy, distal hereditary motor, type IIB, OMIM:608634; Charcot-Marie-Tooth disease, type 2F, OMIM:606595 Penetrance for gene: HSPB1 were set to Incomplete Mode of pathogenicity for gene: HSPB1 was set to Other Review for gene: HSPB1 was set to GREEN gene: HSPB1 was marked as current diagnostic Added comment: HSPB1 variants (typically toxic gain-of-function missense mutations) frequently present with a late-onset, progressive lower motor neuron phenotype that clinically mimics progressive muscular atrophy (PMA) and ALS. Adding this target to the Adult onset neurodegenerative disorder component panel is necessary to capture these LMN mimics upfront on WGS requests for suspected MND (R460.1), preventing sequential and costly WGS reanalysis requests for the neuropathy panel (R78). Sources: Expert Review, Literature |
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