Congenital muscular dystrophy

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-disease is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:35 a.m.
Comment when marking as ready: Expert review green, confirmed DD gene and >3 cases reported.
Created: 11 Jan 2017, 12:23 p.m.
Comment on mode of inheritance: Hemizygous in Gene2Phenotype.
Created: 11 Jan 2017, 12:21 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045; Duchenne or Becker muscular dystrophy

History Filter Activity

2 Jun 2020, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

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

4 Dec 2019, Gel status: 3

Removed Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source was removed from DMD. Source NHS GMS was added to DMD.

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

11 Jan 2017, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DMD were set to Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376

11 Jan 2017, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DMD was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

19 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Congenital muscular dystrophypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory