1. Genes and Genomic Entities
  2. DMD

DMD

dystrophin
OMIM: 300377, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels
Green DMD in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.9

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Duchenne Muscular Dystrophy
Tags
  • Skewed X-inactivation
Red DMD in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Not set
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Tags
    • Skewed X-inactivation
    Red DMD in COVID-19 research


    Level 2: Viral research
    Version 1.141

    		review Not set
    Sources
    • OMIM
    Tags
    • Skewed X-inactivation
    Green DMD in Gastrointestinal neuromuscular disorders

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.23

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Duchenne muscular dystrophy 310200
    Tags
    • gene-therapy-trial
    • Skewed X-inactivation
    Green DMD in Rhabdomyolysis and metabolic muscle disorders

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.48
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Becker muscular dystrophy 300376
    Tags
    • gene-therapy-trial
    • Skewed X-inactivation
    Green DMD in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    		review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Duchenne muscular dystrophy, 310200
    • Becker muscular dystrophy, 300376
    Green DMD in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    		review 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
    Green DMD in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Becker muscular dystrophy, OMIM:300376
    • Duchenne muscular dystrophy, OMIM:310200
    Tags
    • gene-therapy-trial
    • Skewed X-inactivation
    Red DMD in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    Phenotypes
    • Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045
    • Duchenne or Becker muscular dystrophy
    Tags
    • Skewed X-inactivation
    Green DMD in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.32
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Duchenne muscular dystrophy 310200
    • Becker muscular dystrophy 300376
    Tags
    • gene-therapy-trial
    • Skewed X-inactivation
    Green DMD in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.8 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • Becker muscular dystrophy, 300376
    • Cardiomyopathy, dilated, 3B, 302045
    • Duchenne muscular dystrophy, 310200
    Tags
    • Skewed X-inactivation
    No list DMD in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Removed
    Tags
    • Skewed X-inactivation
    Green DMD in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DUCHENNE MUSCULAR DYSTROPHY 310200
    • BECKER MUSCULAR DYSTROPHY 300376
    • CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045
    Tags
    • Skewed X-inactivation
    Red DMD in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.477

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Tags
    • Skewed X-inactivation
    Red DMD in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Tags
    • Skewed X-inactivation
    Green DMD in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045
    • BECKER MUSCULAR DYSTROPHY (BMD)
    Tags
    • gene-therapy-trial
    • Skewed X-inactivation
    Amber DMD in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Tags
    • Skewed X-inactivation
    Green DMD in Paediatric or syndromic cardiomyopathy


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Duchenne muscular dystrophy, 310200
    • Dilated Cardiomyopathy, X-Linked
    • Cardiomyopathy, dilated, 3B
    • Becker muscular dystrophy, 300376
    Tags
    • Skewed X-inactivation
    Red DMD in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy
    Tags
    • Skewed X-inactivation
    Green DMD in Severe Paediatric Disorders


    Version 1.184

    		review 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
    Green DMD in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Becker muscular dystrophy, OMIM:300376
    • Exercise induced crams and myoglobinuria
    Green DMD in Duchenne or Becker muscular dystrophy


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS