1. Genes and Genomic Entities
  2. PDK1

PDK1

pyruvate dehydrogenase kinase 1
OMIM: 602524, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PDK1 in Undiagnosed metabolic disorders

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

review Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
Red PDK1 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 Unknown
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    Phenotypes
    • No OMIM phenotype
    • Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
    Red PDK1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • No OMIM phenotype