1. Genes and Genomic Entities
  2. DUX4

DUX4

double homeobox 4
OMIM: 606009, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red DUX4 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 Not set
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Phenotypes
    • FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
    Red DUX4 in Congenital muscular dystrophy


    Level 2: Neurology
    Version 6.8
    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, NOT imprinted
    Sources
    • UKGTN
    Phenotypes
    • Facioscapulohumeral Muscular Dystrophy 1A
    Tags
    • treatable
    • cnv
    • currently-ngs-unreportable
    Red DUX4 in Arthrogryposis


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

    		review Not set
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Facioscapulohumeral Muscular Dystrophy 1A
    Red DUX4 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, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • South West GLH
    • Expert Review
    Phenotypes
    • Facioscapulohumeral muscular dystrophy, 158900