DPYS

dihydropyrimidinase
OMIM: 613326, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green DPYS in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Dihydropyrimidinuria, OMIM:222748
  • Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
Green DPYS in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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
    • Dihydropyrimidinuria, OMIM:222748
    • Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
    Green DPYS in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Dihydropyrimidinuria, OMIM:222748
    Red DPYS in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

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