PDK3

pyruvate dehydrogenase kinase 3
OMIM: 300906, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PDK3 in Mendeliome


Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905
  • HMSN

Green PDK3 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

3 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905

Green PDK3 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905
  • HMSN