Congenital muscular dystrophy
Gene: DUX4

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.

Panel version: 0.95

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

Phenotypes
Facioscapulohumeral Muscular Dystrophy 1A

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

Panel version: 0.0

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

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 1

Removed Source

Arina Puzriakova (Genomics England Curator)

Source was removed from DUX4.

3 Feb 2023, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DUX4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Jan 2017, Gel status: 1