Rhabdomyolysis and metabolic muscle disorders

Gene: DMD

Green List (high evidence)

DMD (dystrophin)
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 20 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.

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

History Filter Activity

28 May 2020, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Skewed X-inactivation tag was added to gene: DMD.

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

2 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DMD were set to Becker muscular dystrophy 300376

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

DMD was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DMD was created by sleigh