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Severe Paediatric Disorders

Gene: DMD

Green List (high evidence)

DMD (dystrophin)
EnsemblGeneIds (GRCh38): ENSG00000198947
EnsemblGeneIds (GRCh37): ENSG00000198947
OMIM: 300377, Gene2Phenotype
DMD is in 21 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DMD; Recommended initial gene rating: Green List (high evidence); Phenotypes: Becker muscular dystrophy, 300376 (3) | Cardiomyopathy, dilated, 3B, 302045 (3) | Duchenne muscular dystrophy, 310200 (3); Mode of inheritance: X-linked recessive | X-linked | X-linked recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Becker muscular dystrophy, 300376
  • Cardiomyopathy, dilated, 3B, 302045
  • Duchenne muscular dystrophy, 310200
Tags
Skewed X-inactivation
OMIM
300377
Clinvar variants
Variants in DMD
Penetrance
None
Publications
Panels with this gene