Distal myopathies

Gene: DUX4

Red List (low evidence)

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

1 review

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Tags added for repeat expansions, and currently ngs unreportable. FSHD can cause a distal myopathy-like phenotype
Created: 20 Feb 2017, 4:05 p.m.
Comment on mode of pathogenicity: Repeat contraction in the 4q35 region
Created: 20 Feb 2017, 4:04 p.m.

Details

Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
OMIM
606009
Clinvar variants
Variants in DUX4
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Feb 2017, Gel status: 1

Set mode of pathogenicity

Arianna Tucci (Genomics England Curator)

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

20 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DUX4 was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing