Genomics England
GMS Panels
Panels
Genes and Entities

CPOX

coproporphyrinogen oxidase
OMIM: 612732
PanelMode of inheritanceDetails
4 panels
Green
in Cutaneous photosensitivity with a likely genetic cause
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)
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Coproporphyria, 121300, Harderoporphyria, 121300, Skin photosensitivity and haemolytic anaemia. Can present acutely similar to AIP
Green
in Likely inborn error of metabolism
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 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Harderoporphyria 121300, Coproporphyria 121300, Hereditary coproporphyria (Acute neuropathic porphyrias)
Green
in Non-acute 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)