Genomics England
GMS Panels
Panels
Genes and Entities

UROD

uroporphyrinogen decarboxylase
OMIM: 613521
PanelMode of inheritanceDetails
3 panels
Green
in Cutaneous photosensitivity with a likely genetic cause
R-numbers: R237
Signed-off version 3.17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Green
in Non-acute porphyrias
R-numbers: R168
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria cutanea tarda OMIM:176100, Porphyria, hepatoerythropoietic OMIM:176100, familial porphyria cutanea tarda MONDO:0008296