STAR

steroidogenic acute regulatory protein
OMIM: 600617
PanelMode of inheritanceDetails
4 panels
R-numbers: R150
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia, Lipoid adrenal hyperplasia, 201710
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710
R-numbers: R146
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN), Lipoid adrenal hyperplasia, 201710
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA