1. Genes and Genomic Entities
  2. DNAJB6

DNAJB6

DnaJ heat shock protein family (Hsp40) member B6
OMIM: 611332, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green DNAJB6 in Distal myopathies


Level 2: Neurology
Version 6.16
Latest signed off version: v6.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • limb-girdle muscular dystrophy type 1E, 603511
    Red DNAJB6 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Myofibrillar Myopathy, Dominant
    Red DNAJB6 in Congenital myopathy


    Level 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511
    Green DNAJB6 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Limb-Girdle Muscular Dystrophy, Dominant
    • Muscular dystrophy, limb-girdle, type 1E, 603511