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| Adult onset neurodegenerative disorder v9.1 | HSPB8 |
Oliver Ziff gene: HSPB8 was added gene: HSPB8 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HSPB8 were set to Charcot Marie Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590; Neuropathy, distal hereditary motor, type IIA, 158590 Penetrance for gene: HSPB8 were set to Incomplete Mode of pathogenicity for gene: HSPB8 was set to Other Review for gene: HSPB8 was set to GREEN Added comment: Heat shock protein variant classically present with a late-onset, progressive lower motor neuron phenotype that clinically mimics progressive muscular atrophy. Inclusion prevents sequential WGS reanalysis on R460.1 requests. Sources: Expert Review, Literature |
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