HSPB3

heat shock protein family B (small) member 3
OMIM: 604624, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red HSPB3 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 Red
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type IIC 613376
Red HSPB3 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 Red
    • Expert
    Phenotypes
    • ?Neuronopathy, distal hereditary motor, type IIC 613376
    Red HSPB3 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 Red
    • UKGTN
    • Expert list
    Phenotypes
    • ?Neuronopathy, distal hereditary motor, type IIC, 613376
    Red HSPB3 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • Expert Review Red
    • UKGTN
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • ?Neuronopathy, distal hereditary motor, type IIC, 613376