Neurodegenerative disorders, adult onset

Gene: HSPB8

I don't know

HSPB8 is associated with Charcot-Marie-Tooth disease, axonal, type 2L (OMIM:608673); Myopathy, myofibrillar, 13, with rimmed vacuoles (OMIM:621078); Neuronopathy, distal hereditary motor, autosomal dominant 2 (OMIM:158590) (accessed 10/2026).

As reviewed by Oliver Ziff, HSPB8-related disease may present in adulthood or enter an adult lower motor neuron (LMN) disease or progressive muscular atrophy (PMA) diagnostic pathway because of overlapping clinical presentation (Putko et al. (2025) PMID 41426051)). NHS England review is ongoing to determine whether HSPB8 falls within the intended scope of the adult-onset neurodegenerative disorders panel, based on potential diagnostic utility rather than a definitive association with adult-onset neurodegeneration.

Created: 6 Oct 2026, 10:49 a.m. | Last Modified: 6 Oct 2026, 10:54 a.m.

Panel Version: 9.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2L (OMIM:608673); Myopathy, myofibrillar, 13, with rimmed vacuoles (OMIM:621078); Neuronopathy, distal hereditary motor, autosomal dominant 2 (OMIM:158590); neuronopathy, distal hereditary motor, type 2A (MONDO:0008025); Charcot-Marie-Tooth disease axonal type 2L (MONDO:0012096)

Publications

• 41426051

Green List (high evidence)

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

Created: 22 May 2026, 1:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot Marie Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590; Neuropathy, distal hereditary motor, type IIA, 158590

Mode of pathogenicity
Other