1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. DUX4
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: DUX4

Red List (low evidence)
DUX4 (double homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000260596
EnsemblGeneIds (GRCh37): ENSG00000258389
OMIM: 606009, Gene2Phenotype
DUX4 is in 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Macrosatellite repeats.
Created: 25 Jan 2017, 12:15 p.m.
Added the CNV and 'currently ngs unreportable' tag - see publications for more details.
Created: 25 Jan 2017, 12:10 p.m.
Added 'treatable' tag, as tyrosine kinase inhibitors may be a potential treatment for facioscapulohumeral dystrophy: see PMID: 27841748, or antisense therapy: PMID: 27672539.
Created: 25 Jan 2017, 12:09 p.m.
Created: 25 Jan 2017, 12:04 p.m.

Copied from panel: Congenital muscular dystrophy v3.43

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

Phenotypes
Facioscapulohumeral Muscular Dystrophy 1A

Created: 19 Dec 2016, 11:47 a.m.

Copied from panel: Congenital muscular dystrophy v3.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
Phenotypes
  • Facioscapulohumeral Muscular Dystrophy 1A
Tags
treatable currently-ngs-unreportable cnv
OMIM
606009
Clinvar variants
Variants in DUX4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: DUX4 was added gene: DUX4 was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN treatable, currently-ngs-unreportable, cnv tags were added to gene: DUX4. Mode of inheritance for gene: DUX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DUX4 were set to 28040729; 27922500; 27816329; 27841748; 27672539 Phenotypes for gene: DUX4 were set to Facioscapulohumeral Muscular Dystrophy 1A Penetrance for gene: DUX4 were set to Complete