1. Genes and Genomic Entities
  2. UROD

UROD

uroporphyrinogen decarboxylase
OMIM: 613521, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green UROD in Non-acute porphyrias


Version 1.24
Latest signed off version: v1.4 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Porphyria cutanea tarda OMIM:176100
  • Porphyria, hepatoerythropoietic OMIM:176100
  • familial porphyria cutanea tarda MONDO:0008296
Green UROD in Cutaneous photosensitivity with a likely genetic cause


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Green UROD in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Green UROD in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
    Red UROD in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green UROD in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Porphyria cutanea tarda, 176100
    • Porphyria, hepatoerythropoietic, 176100