CPOX

coproporphyrinogen oxidase
OMIM: 612732, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green CPOX in Non-acute porphyrias


Version 1.23
Latest signed off version: v1.4 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Harderoporphyria OMIM:618892
  • harderoporphyria MONDO:0030048
  • Coproporphyria OMIM:121300
  • hereditary coproporphyria MONDO:0007369
Green CPOX in Cutaneous photosensitivity with a likely genetic cause


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Harderoporphyria 121300
  • Coproporphyria 121300
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
Red CPOX in Vascular skin disorders


Version 1.54
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Green CPOX in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.613

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
  • Coproporphyria 121300
  • Harderoporphyria 121300
Tags
  • treatable
Green CPOX in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Harderoporphyria 121300
    • Coproporphyria 121300
    • Hereditary coproporphyria (Acute neuropathic porphyrias)
    Green CPOX in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.476

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Coproporphyria, 121300
    • Harderoporphyria, 121300
    • Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
    Green CPOX in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Coproporphyria, 121300
    • Harderoporphyria, 121300
    • Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
    Red CPOX in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

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


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Harderoporphyria, 121300
    • Coproporphyria, 121300