EMD

PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R132
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
R-numbers: R21, R412
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R328
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Heart conduction disease, MONDO:0000992