1. Genes and Genomic Entities
  2. POR

POR

cytochrome p450 oxidoreductase
OMIM: 124015, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green POR in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Green POR in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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 POR in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
    • Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
    Green POR in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
    • Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
    Green POR in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    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 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
    • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
    Green POR in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.180
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert list
    Phenotypes
    • 201750
    • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
    Red POR in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green POR in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571
    • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750