PPOX

protoporphyrinogen oxidase
OMIM: 600923
PanelMode of inheritanceDetails
4 panels
R-numbers: R237
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Porphyria variegata 176200, Variegate porphyria (Acute neuropathic porphyrias)
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porphyria variegata, 176200, Skin photosensitivity. Acute episodes 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
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