1. Genes and Genomic Entities
  2. HSPB1

HSPB1

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

6 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0 (22 Mar 2023)

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
    Green HSPB1 in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Neuropathy, distal hereditary motor type IIB, 608634
    Amber HSPB1 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.6
    Latest signed off version: v3.3 (22 Mar 2023)

    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 1.477

    		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


    Version 3.93
    Latest signed off version: v3.24 (15 May 2023)

    		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
    Green HSPB1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuropathy, distal hereditary motor, type IIB, 608634
    • Charcot-Marie-Tooth disease, axonal, type 2F, 606595