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 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Green
in Likely inborn error of metabolism - targeted testing not possible
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
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 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)