Adult onset neurodegenerative disorder
Gene: HSPB8

HSPB8 (heat shock protein family B (small) member 8)
EnsemblGeneIds (GRCh38): ENSG00000152137
EnsemblGeneIds (GRCh37): ENSG00000152137
OMIM: 608014, Gene2Phenotype
HSPB8 is in 5 panels

1 review

Oliver Ziff (University College London)

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

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

Panel version: 9.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

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

OMIM

608014

Clinvar variants

Variants in HSPB8

Penetrance

Incomplete

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

22 May 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Oliver Ziff (University College London)

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

Adult onset neurodegenerative disorder Gene: HSPB8