CPOX

coproporphyrinogen oxidase
OMIM: 612732
PanelMode of inheritanceDetails
4 panels
R-numbers: R237
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Harderoporphyria 121300, Coproporphyria 121300, Hereditary coproporphyria (Acute neuropathic porphyrias)
R-numbers: R78
Signed-off version 3.24
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Coproporphyria, 121300, Harderoporphyria, 121300, Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Harderoporphyria 121300, Coproporphyria 121300, Hereditary coproporphyria (Acute neuropathic porphyrias)
R-numbers: R168
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Harderoporphyria 121300, Coproporphyria 121300, Hereditary coproporphyria (Acute neuropathic porphyrias)