UROD

uroporphyrinogen decarboxylase
OMIM: 613521
PanelMode of inheritanceDetails
3 panels
R-numbers: R237
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
R-numbers: R168
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)