PDK3

pyruvate dehydrogenase kinase 3
OMIM: 300906, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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