1. Genes and Genomic Entities
  2. HSPB1

HSPB1

heat shock protein family B (small) member 1
OMIM: 602195, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green HSPB1 in Distal myopathies


Level 2: Neurology
Version 7.6
Latest signed off version: v7.5 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuropathy, distal hereditary motor type IIB, 608634
    No list HSPB1 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review
    Phenotypes
    • Neuropathy, distal hereditary motor, type IIB, OMIM:608634
    • Charcot-Marie-Tooth disease, type 2F, OMIM:606595
    Amber HSPB1 in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.17
    Latest signed off version: v3.16 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert
    Phenotypes
    • Neuropathy, distal hereditary motor, type IIB, OMIM:608634
    • Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595
    Green HSPB1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.513

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Neuropathy, distal hereditary motor, type IIB, 608634
    • Neuropathy, distal hereditary motor, type IIB, 608634
    • Charcot Marie Tooth disease, axonal, type 2F, 606595
    Green HSPB1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.30 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot Marie Tooth disease, axonal, type 2F, 606595
    • Neuropathy, distal hereditary motor, type IIB, 608634