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Inborn errors of metabolism

Gene: PDK1

Red List (low evidence)

PDK1 (pyruvate dehydrogenase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000152256
EnsemblGeneIds (GRCh37): ENSG00000152256
OMIM: 602524, Gene2Phenotype
PDK1 is in 3 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned.
Created: 27 Sep 2019, 2:31 p.m. | Last Modified: 27 Sep 2019, 3:26 p.m.
Panel Version: 1.311

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

Red List (low evidence)

Not associated with phenotype in OMIM or G2P. No variants reported. On Radboud MITOCHONDRIAL DISORDERS panel
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
Unknown

Phenotypes
Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • No OMIM phenotype
  • Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
OMIM
602524
Clinvar variants
Variants in PDK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pdk1 has been classified as Red List (Low Evidence).

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PDK1. Source London North GLH was added to PDK1.

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: PDK1 Publications for gene PDK1 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: PDK1 was added gene: PDK1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDK1 was set to Unknown Phenotypes for gene: PDK1 were set to No OMIM phenotype