DMD

PanelMode of inheritanceDetails
7 panels
R-numbers: R135
Signed-off version 1.4
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
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Duchenne muscular dystrophy, 310200, Becker muscular dystrophy, 300376
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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 cardiac death
R-numbers: R132
Signed-off version 1.6
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
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:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Becker muscular dystrophy 300376