DNAJB4

DnaJ heat shock protein family (Hsp40) member B4
OMIM: 611327, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red DNAJB4 in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 0.178

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Myopathy, MONDO:0005336, DNAJB4-related

    Green DNAJB4 in Mendeliome


    Version 1.1891

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital myopathy 21 with early respiratory failure, MIM# 620326
    • distal myopathy MONDO:0018949

    Green DNAJB4 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital Myopathy 21 with early respiratory failure (MIM#620326
    • MONDO:005336)

    Green DNAJB4 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • distal myopathy MONDO:0018949
    • Myopathy, MONDO:0005336, DNAJB4-related