UROS

uroporphyrinogen III synthase
OMIM: 606938, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red UROS in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Porphyria, congenital erythropoietic, 263700
  • Congenital erythropoietic porphyria
  • Gunther's disease
Green UROS in Non-acute porphyrias


Version 1.23
Latest signed off version: v1.4 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Porphyria, congenital erythropoietic OMIM:263700
  • cutaneous porphyria MONDO:0009902
Green UROS in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.116

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porphyria, congenital erythropoietic 263700
Tags
  • treatable
Green UROS in Cutaneous photosensitivity with a likely genetic cause


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
  • Porphyria, congenital erythropoietic 263700
Green UROS in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.613

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
  • Porphyria, congenital erythropoietic 263700
Tags
  • treatable
Green UROS in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
    • Porphyria, congenital erythropoietic 263700
    Green UROS in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CONGENITAL ERYTHROPOIETIC PORPHYRIA
    Green UROS in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700
    Red UROS in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.477
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Porphyria, congenital erythropoietic, 263700
    Red UROS in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

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


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Porphyria, congenital erythropoietic, 263700