Genomics England
GMS Panels
Panels
Genes and Entities

PPOX

protoporphyrinogen oxidase
OMIM: 600923
PanelMode of inheritanceDetails
6 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
Porphyria variegata 176200, Variegate porphyria (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
Porphyria variegata, OMIM:176200, Sensory neuropathy, HP:0000763
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
Porphyria variegata 176200, Variegate porphyria (Acute neuropathic porphyrias)
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Porphyria variegata, 176200
Green
in Non-acute porphyrias
R-numbers: R168
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Variegate porphyria (Acute neuropathic porphyrias), Porphyria variegata 176200
Green
in Variegate porphyria
R-numbers: R170
Signed-off version 1.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes