Congenital muscular dystrophy

Gene: DUX4

Red List (low evidence)

DUX4 (double homeobox 4)
EnsemblGeneIds (GRCh38): ENSG00000260596
EnsemblGeneIds (GRCh37): ENSG00000258389
OMIM: 606009, Gene2Phenotype
DUX4 is in 5 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.

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

Phenotypes
Facioscapulohumeral Muscular Dystrophy 1A

Details

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

27 Jan 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

25 Jan 2017, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for DUX4 was changed to Other - please provide details in the comments

25 Jan 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DUX4 were set to 28040729; 27922500; 27816329; 27841748;27672539

25 Jan 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DUX4 were set to 28040729;27922500;27816329;27841748

25 Jan 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DUX4 were set to 28040729;27922500

25 Jan 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DUX4 were set to 28040729

19 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DUX4 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DUX4 was added to Congenital muscular dystrophypanel. Sources: UKGTN