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  3. HSPB1
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Adult onset neurodegenerative disorder

Gene: HSPB1

No list
HSPB1 (heat shock protein family B (small) member 1)
EnsemblGeneIds (GRCh38): ENSG00000106211
EnsemblGeneIds (GRCh37): ENSG00000106211
OMIM: 602195, Gene2Phenotype
HSPB1 is in 5 panels

1 review

Oliver Ziff (University College London)

Green List (high evidence)

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
Created: 22 May 2026, 12:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, distal hereditary motor, type IIB, OMIM:608634; Charcot-Marie-Tooth disease, type 2F, OMIM:606595

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2026, 12:57 p.m.

Panel version: 9.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Neuropathy, distal hereditary motor, type IIB, OMIM:608634
  • Charcot-Marie-Tooth disease, type 2F, OMIM:606595
OMIM
602195
Clinvar variants
Variants in HSPB1
Penetrance
Incomplete
Publications
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 publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Oliver Ziff (University College London)

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