UROD

uroporphyrinogen decarboxylase
OMIM: 613521
PanelMode of inheritanceDetails
3 panels
R-numbers: R237
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
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 5.6
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)