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Inborn errors of metabolism

Gene: PDK4

Red List (low evidence)

PDK4 (pyruvate dehydrogenase kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000004799
EnsemblGeneIds (GRCh37): ENSG00000004799
OMIM: 602527, Gene2Phenotype
PDK4 is in 3 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)(https://www.ncbi.nlm.nih.gov/clinvar/variation/219304/). Only associated with metabolics in mice
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
Unknown

Phenotypes
Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)

Publications

Shamima Rahman (UCL Institute of Child Health)

I don't know

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

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • No OMIM phenotype
  • Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
OMIM
602527
Clinvar variants
Variants in PDK4
Penetrance
None
Publications
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