DMD

PanelMode of inheritanceDetails
9 panels
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
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
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
R-numbers: R73
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
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)
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
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
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