Genomics England
GMS Panels
Panels
Genes and Entities

AR

androgen receptor
OMIM: 313700
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200, ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ANDROGEN INSENSITIVITY SYNDROME