DNAJB2

DnaJ heat shock protein family (Hsp40) member B2
OMIM: 604139, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red DNAJB2 in Other rare neuromuscular disorders


Version 19.199
Latest signed off version: v19.1 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Green DNAJB2 in Adult onset neurodegenerative disorder


Version 4.46
Latest signed off version: v4.34 (31 Jul 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 5, OMIM:614881
  • young adult-onset distal hereditary motor neuropathy, MONDO:0013947
Red DNAJB2 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
    Green DNAJB2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.476

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • London North GLH
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Hereditary Neuropathies
    Green DNAJB2 in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies