1. Genes and Genomic Entities
  2. DUX4

DUX4

double homeobox 4
OMIM: 606009, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red DUX4 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0 (22 Mar 2023)

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 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
    • FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
    • Facioscapulohumeral muscular dystrophy, 158900
    • Facioscapulohumeral Muscular Dystrophy 1A
    Red DUX4 in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    		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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.32
    Latest signed off version: v4.0 (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
    • NHS GMS
    • South West GLH
    • Expert Review
    Phenotypes
    • Facioscapulohumeral muscular dystrophy, 158900