Genomics England
GMS Panels
Panels
Genes and Entities

AR_CAG

androgen receptor
OMIM: 313700
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 5.4
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
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, 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
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
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
Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 4.11
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
Green
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.7
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