HSPB8

heat shock protein family B (small) member 8
OMIM: 608014, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green HSPB8 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 Review
    Phenotypes
    • Neuropathy, distal hereditary motor type IIA, 158590
    • distal myopathy

    Green HSPB8 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 IIA, 158590
    • Distal myopathy

    Amber HSPB8 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 IIA, OMIM:158590

    Green HSPB8 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
    • Charcot Marie Tooth disease, axonal, type 2L, 608673
    • Neuropathy, distal hereditary motor, type IIA, 158590
    • Neuropathy, distal hereditary motor, type IIA, 158590

    Green HSPB8 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
    • Neuropathy, distal hereditary motor, type IIA, 158590
    • Charcot Marie Tooth disease, axonal, type 2L, 608673

    Green HSPB8 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
    • Charcot-Marie-Tooth disease, axonal, type 2L, 608673
    • Neuropathy, distal hereditary motor, type IIA, 158590