DPYD

dihydropyrimidine dehydrogenase
OMIM: 612779, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green DPYD in White matter disorders and cerebral calcification - narrow panel


Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Dihydropyrimidine dehydrogenase deficiency
    • 5-fluorouracil toxicity 274270

    Red DPYD in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green DPYD in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.159

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • 5-fluorouracil toxicity 274270
    • Dihydropyrimidine dehydrogenase deficiency 274270
    Tags
    • pharmacogenetics

    Green DPYD in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
    • Dihydropyrimidine dehydrogenase deficiency 274270
    Tags
    • pharmacogenetics

    Green DPYD in Inborn errors of metabolism


    Version 2.263
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Dihydropyrimidine dehydrogenase deficiency 274270
    • Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)

    Green DPYD in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    Phenotypes
    • 5-fluorouracil toxicity 274270
    • Dihydropyrimidine dehydrogenase deficiency 274270

    Green DPYD in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270
    Tags
    • pharmacogenetics

    Red DPYD in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Dihydropyrimidine dehydrogenase deficiency , 274270

    Red DPYD in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green DPYD in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • 5-fluorouracil toxicity, 274270
    • Dihydropyrimidine dehydrogenase deficiency, 274270