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 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coproporphyria, OMIM:121300, Harderoporphyria, OMIM:618892
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 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coproporphyria, OMIM:121300, Harderoporphyria, OMIM:618892
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)