DMD

dystrophin
OMIM: 300377, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green DMD in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.7

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 1.29
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • 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 1.77

    review Not set
    Sources
    • OMIM
    Tags
    • Skewed X-inactivation

    Green DMD in Gastrointestinal neuromuscular disorders

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.14

    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 1.46
    Latest signed off version: v1.34 (4 Mar 2020)

    Component of the following Super Panels:

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

    Green DMD in Neuromuscular disorders


    Version 5.167
    Latest signed off version: v5.43 (4 Mar 2020)

    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 1.70

    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 2.8
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • 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
    • Duchenne muscular dystrophy, 310200
    • Becker muscular dystrophy, 300376
    Tags
    • gene-therapy-trial
    • Skewed X-inactivation

    Red DMD in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.104
    Latest signed off version: v3.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Red
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • 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 dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.18
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • 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 cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.25
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 1.678
    Latest signed off version: v1.92 (21 Aug 2020)

    review Not set
    Sources
    • Expert Review Removed
    Tags
    • Skewed X-inactivation

    Green DMD in DDG2P


    Version 2.28
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.385

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Tags
    • Skewed X-inactivation

    Red DMD in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.175
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Expert
    Tags
    • Skewed X-inactivation

    Green DMD in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.187
    Latest signed off version: v2.7 (25 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Tags
    • Skewed X-inactivation

    Green DMD in Cardiomyopathies - including childhood onset


    Version 1.45
    Latest signed off version: v1.4 (19 Feb 2020)

    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 NOT PMP22 copy number


    Version 1.27
    Latest signed off version: v1.2 (27 Feb 2020)

    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 1.78

    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