CPOX

coproporphyrinogen oxidase
OMIM: 612732
PanelMode of inheritanceDetails
4 panels
R-numbers: R237
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Harderoporphyria 121300, Coproporphyria 121300, Hereditary coproporphyria (Acute neuropathic porphyrias)
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coproporphyria, 121300, Harderoporphyria, 121300, Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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)