1. Genes and Genomic Entities
  2. PDK4

PDK4

pyruvate dehydrogenase kinase 4
OMIM: 602527, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red PDK4 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature
Red PDK4 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
Red PDK4 in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    • Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
    Red PDK4 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

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