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Undiagnosed metabolic disorders

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

2 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: 1.342
Created: 27 Sep 2019, 2:31 p.m.
Last Modified: 27 Sep 2019, 3:26 p.m.
Panel version: 1.338

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)

Created: 23 Feb 2017, 5:15 p.m.

Panel version: 0.304

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
OMIM
602524
Clinvar variants
Variants in PDK1
Penetrance
Complete
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).

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PDK1 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red PDK1 was added to Undiagnosed metabolic disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene PDK1 was set to Unknown

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PDK1 was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PDK1 was added to Undiagnosed metabolic disorderspanel. Sources: Literature