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 1.33
Latest signed off version: v1.32 (16 Dec 2021)

Component of the following Super Panels:

  • Hypotonic infant
  • 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 Neuromuscular disorders


    Version 5.177
    Latest signed off version: v5.172 (16 Dec 2021)

    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 1.64
    Latest signed off version: v1.63 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • 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 1.394

    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 NOT PMP22 copy number


    Version 1.28
    Latest signed off version: v1.27 (16 Dec 2021)

    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 1.66

    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