UROD

uroporphyrinogen decarboxylase
OMIM: 613521, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green UROD in Non-acute porphyrias


Version 1.21
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 1.8
Latest signed off version: v1.3 (15 Oct 2020)

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 1.488

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

Green UROD in Inborn errors of metabolism


Version 2.190
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 or chorea or related movement disorder


    Version 1.166
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green UROD in Severe Paediatric Disorders


    Version 1.84

    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