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 3.161
Latest signed off version: v3.2 (13 Feb 2020)

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 2.66
Latest signed off version: v2.2 (3 Mar 2020)

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 2.208
Latest signed off version: v2.2 (13 Feb 2020)

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 1.542

    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 Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    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 Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green POR in Severe Paediatric Disorders


    Version 1.127

    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