Genomics England

POR

cytochrome p450 oxidoreductase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 201750, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571