1. Genes and Genomic Entities
  2. DPYD

DPYD

dihydropyrimidine dehydrogenase
OMIM: 612779, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green DPYD in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.24
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Dihydropyrimidine dehydrogenase deficiency
    • 5-fluorouracil toxicity 274270
    Green DPYD in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		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 1.645

    		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 Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.107
    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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Dihydropyrimidine dehydrogenase deficiency 274270
    • Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
    Green DPYD in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.176
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 2: Developmental disorders
    Version 9.370
    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 Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270
    Tags
    • pharmacogenetics
    Red DPYD in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Dihydropyrimidine dehydrogenase deficiency , 274270
    Red DPYD in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

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