PanelApp
  1. Genes and Genomic Entities
  2. UROC1

UROC1

urocanate hydratase 1
OMIM: 613012, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber UROC1 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Urocanase deficiency, MIM#276880

Red UROC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Urocanase deficiency, MIM#276880

Amber UROC1 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.57

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Urocanase deficiency, MIM#276880

    Red UROC1 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Urocanase deficiency, MIM#276880

    Amber UROC1 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • ClinGen
    Phenotypes
    • urocanic aciduria MONDO:0010167