1. Genes and Genomic Entities
  2. UPB1

UPB1

beta-ureidopropionase 1
OMIM: 606673, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red UPB1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism)
  • Beta-ureidopropionase deficiency 613161
Green UPB1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism)
    • Beta-ureidopropionase deficiency 613161
    Amber UPB1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Beta-ureidopropionase deficiency, 613161 (can include mental retardation, developmental delay)