POR

cytochrome p450 oxidoreductase
OMIM: 124015, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green POR in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750
Green POR in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.74	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM# 201750
Green POR in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.36	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Green POR in Mendeliome Version 1.4216	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Green POR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.402	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Green POR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Green POR in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.394	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Green POR in Additional findings_Paediatric Level 2: Screening Version 0.280	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Disordered steroidogenesis with and without Antley-Bixler syndrome
Green POR in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.60 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Green POR in Fetal anomalies Version 1.522	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Green POR in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Green POR in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571 Tags treatable endocrine
Green POR in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750)
Green POR in Infertility and Recurrent Pregnancy Loss Version 1.78	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571
Green POR in Congenital adrenal hyperplasia Level 3: Adrenal disorders Level 2: Endocrine disorders Version 0.8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
Green POR in Adrenal insufficiency Level 3: Adrenal disorders Level 2: Endocrine disorders Version 0.57	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571