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  3. DUX4
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Arthrogryposis

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

Alice Gardham (Genomics England)

Comment when marking as ready: No known association with arthrogryposis
Created: 4 Jan 2017, 3:31 p.m.
Created: 4 Jan 2017, 3:31 p.m.

Panel version: 1.182

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: Imported from "Congenital muscular dystrophy" panel version 0.0

Details

Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Facioscapulohumeral Muscular Dystrophy 1A
OMIM
606009
Clinvar variants
Variants in DUX4
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DUX4 was created by ellenmcdonagh

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DUX4 was added to Arthrogryposispanel. Sources: UKGTN,