Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: PDK4

Red List (low evidence)

PDK4 (pyruvate dehydrogenase kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000004799
EnsemblGeneIds (GRCh37): ENSG00000004799
OMIM: 602527, Gene2Phenotype
PDK4 is in 4 panels

2 reviews

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Not associated with phenotype in OMIM or G2P. No variants reported. Susceptibility to malignant prostate cancer (although variant is VUS)( Only associated with metabolics in mice
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance

Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)


Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature
Created: 4 Feb 2016, 9:08 p.m.


Mode of Inheritance
  • London North GLH
  • Expert Review Red
  • No OMIM phenotype
  • Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
Clinvar variants
Variants in PDK4
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PDK4. Source London North GLH was added to PDK4.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK4 Publications for gene PDK4 were changed from to 27604308

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PDK4 was added gene: PDK4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDK4 was set to Unknown Phenotypes for gene: PDK4 were set to No OMIM phenotype