PDK3

pyruvate dehydrogenase kinase 3
OMIM: 300906, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber PDK3 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.418

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905

Amber PDK3 in Inborn errors of metabolism


Version 2.15
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    Phenotypes
    • ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905

    Red PDK3 in Possible mitochondrial disorder - nuclear genes


    Version 1.15
    Signed off v.1.13 on 17 Feb 2020

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905

    Red PDK3 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.374

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • London North GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
    • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905

    Red PDK3 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905

    Amber PDK3 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.6
    Signed off v.1.2 on 27 Feb 2020

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • London North GLH
    • NHS GMS
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • ?Charcot Marie Tooth disease, X linked dominant, 6, 300905