Rhabdomyolysis and metabolic muscle disorders
Gene: DMD

DMD (dystrophin)
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 19 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:34 a.m.

Created: 14 May 2018, 9:34 a.m.

Panel version: 1.21

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported.
Created: 2 Dec 2016, 10:54 a.m.

Comment on phenotypes: Variants also reported in Cardiomyopathy, dilated, 3B 302045;
Duchenne muscular dystrophy 310200
Created: 2 Dec 2016, 10:53 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Becker muscular dystrophy 300376

Created: 1 Dec 2016, 2:38 p.m.

Panel version: 0.43

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Becker muscular dystrophy 300376

Tags

gene-therapy-trial Skewed X-inactivation

OMIM

300377

Clinvar variants

Variants in DMD

Penetrance

Complete

Panels with this gene