AR

androgen receptor
OMIM: 313700
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
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 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Androgen insensitivity, OMIM:300068, Androgen insensitivity, partial, with or without breast cancer, OMIM:312300, Hypospadias 1, X-linked, OMIM:300633
R-numbers: R21, R412
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ANDROGEN INSENSITIVITY SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200