PPOX

protoporphyrinogen oxidase
OMIM: 600923
PanelMode of inheritanceDetails
5 panels
R-numbers: R237
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Porphyria variegata 176200, Variegate porphyria (Acute neuropathic porphyrias)
R-numbers: R78
Signed-off version 3.66
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria variegata, 176200, Skin photosensitivity. Acute episodes 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 4.78
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Porphyria variegata 176200, Variegate porphyria (Acute neuropathic 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
R-numbers: R170
Signed-off version 1.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes