AR_CAG

androgen receptor
OMIM: 313700
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
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
Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
R-numbers: R78
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
R-numbers: R58
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
Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200