POR

cytochrome p450 oxidoreductase
OMIM: 124015
PanelMode of inheritanceDetails
6 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
R-numbers: R100
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
201750, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
R-numbers: R146
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN), Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis AR, 201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571