CPOX

coproporphyrinogen oxidase
OMIM: 612732, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CPOX in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coproporphyria, MIM#121300
  • Harderoporphyria, MIM#121300

Green CPOX in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Coproporphyria 121300
  • Harderoporphyria 618892

Green CPOX in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.14

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Coproporphyria, MIM#121300
    • Harderoporphyria, MIM#121300

    Green CPOX in Haem degradation and bilirubin metabolism defects


    Level 2: Metabolic disorders
    Version 0.17

    Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Coproporphyria 121300
    • Hereditary coproporphyria (Acute neuropathic porphyrias)
    • Harderoporphyria 121300

    Red CPOX in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Coproporphyria

    Red CPOX in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Coproporphyria
    • Coproporphyria , MIM#121300