Genomics England
GMS Panels
Panels
Genes and Entities

DMD

dystrophin
OMIM: 300377
PanelMode of inheritanceDetails
9 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Becker muscular dystrophy, OMIM:300376, Exercise induced crams and myoglobinuria
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Becker muscular dystrophy, OMIM:300376, Duchenne muscular dystrophy, OMIM:310200
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DUCHENNE MUSCULAR DYSTROPHY 310200, BECKER MUSCULAR DYSTROPHY 300376, CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045
Green
in Dilated and arrhythmogenic cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R132
Signed-off version 2.25
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Becker muscular dystrophy, 300376, Cardiomyopathy, dilated, 3B, 302045, Duchenne muscular dystrophy, 310200
Green
in Duchenne or Becker muscular dystrophy
R-numbers: R73
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045, BECKER MUSCULAR DYSTROPHY (BMD)
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Duchenne muscular dystrophy 310200, Becker muscular dystrophy 300376
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Duchenne muscular dystrophy, 310200, Dilated Cardiomyopathy, X-Linked, Cardiomyopathy, dilated, 3B, Becker muscular dystrophy, 300376
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Becker muscular dystrophy 300376