Limb girdle 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

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 11:45 a.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Associated with FSHD
Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Facioscapulohumeral muscular dystrophy, 158900

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Rated as red because the mutation is currently NGS unreportable. The mutation is a contraction of the D4Z4 macrosatellite array in the subtelomeric region of chromosome 4q35 (normal = 11 to 150 repeat units, ~3.3Kb per unit; contracted = 1 to 10 repeat units). There are two haplotypes of the D4Z4: 4A and 4B. The contraction mutation of the D4Z4 array cause the FSHMD phenotype only when the mutation is on the 4A haplotype. Current diagnostic testing is carried out as follows: 1- the length or number of repeat units of the D4Z4 locus is determined by Southern blot analysis; 2- if a contraction is detected, 4A/4B haplotypes are determined to confirm that the contraction occurs on the 4A and avoid false positives
Created: 27 Mar 2017, 10:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Facioscapulohumeral muscular dystrophy, 158900

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
  • Expert Review
Phenotypes
  • Facioscapulohumeral muscular dystrophy, 158900
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

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dux4 has been classified as Red List (Low Evidence).

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DUX4.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to DUX4.

27 Mar 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

DUX4 was created by arianna

27 Mar 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

DUX4 was added to Limb girdle muscular dystrophypanel. Sources: Expert Review