AR

androgen receptor
OMIM: 313700
PanelMode of inheritanceDetails
4 panels
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
ANDROGEN INSENSITIVITY SYNDROME 300068, SPINAL AND BULBAR MUSCULAR ATROPHY 313200
R-numbers: R146
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Gender Assignment Gene Panel UKGTN, Androgen insensitivity,300068, Androgen insensitivity,partial,with/without breast cancer,312300, Hypospadias 1,X-linked,300633
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ANDROGEN INSENSITIVITY SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633