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  3. DMD
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Dilated Cardiomyopathy and conduction defects

Gene: DMD

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

3 reviews

Rebecca Whittington (South West GLH)

Green List (high evidence)

Becker muscular dystrophy OMIM#300376;Cardiomyopathy, dilated, 3B OMIM#302045;Duchenne muscular dystrophy OMIM#310200
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 40 variants listed including CNVs. Only 8 classed as VUS and all missense. 1 x nonsense Pathogenic: Cuenca (2016) J Heart Lung Transplant 35: 625. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531. Review: Nakamura Pharmaceuticals 2015, 8, 303-320; doi:10.3390/ph8020303
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 1.46

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 3B
  • Dilated Cardiomyopathy, X-Linked
Tags
Skewed X-inactivation
OMIM
300377
Clinvar variants
Variants in DMD
Penetrance
Complete
Panels with this gene

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.

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to DMD.

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to DMD. Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

14 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DMD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

14 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DMD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DMD was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DMD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services