PNPO

pyridoxamine 5'-phosphate oxidase
OMIM: 603287, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PNPO in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.418

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)

Green PNPO in Inborn errors of metabolism


Version 2.15
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)

    Green PNPO in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.118
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert
    Phenotypes
    • Pyridoxamine 5'-phosphate oxidase deficiency, 610090
    Tags
    • treatable

    Amber PNPO in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    Signed off v.3.2 on 13 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 Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Pyridoxamine 5'-phosphate oxidase deficiency, 610090
    • Neonatal epileptic encephalopathy
    • Global developmental delay
    Tags
    • treatable

    Red PNPO in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

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

    Green PNPO in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pyridoxamine 5'-phosphate oxidase deficiency, 610090