CPOX

coproporphyrinogen oxidase
OMIM: 612732, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CPOX in Mendeliome


Version 2.0

1 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 2.0

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

Green CPOX in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 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 1.0

1 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 1.0

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

Red CPOX in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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