1. Panels
  2. Likely inborn error of metabolism
  3. PDP2
Genes in panel
Prev Next

Likely inborn error of metabolism

Gene: PDP2

Red List (low evidence)
PDP2 (pyruvate dehyrogenase phosphatase catalytic subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000172840
EnsemblGeneIds (GRCh37): ENSG00000172840
OMIM: 615499, Gene2Phenotype
PDP2 is in 5 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

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/161736/) Only associated with metabolics in mice
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
Unknown

Phenotypes
Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)

Publications

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

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature; good candidate gene for pyruvate dehydrogenase deficiency
Created: 6 Feb 2016, 11:40 p.m.
Created: 6 Feb 2016, 11:40 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Ellen McDonagh (Genomics England Curator)

Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).
Created: 13 Nov 2015, 3:14 p.m.
Created: 13 Nov 2015, 3:14 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
OMIM
615499
Clinvar variants
Variants in PDP2
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 PDP2. Source London North GLH was added to PDP2.

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

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

Ellen McDonagh (Genomics England Curator)

gene: PDP2 was added gene: PDP2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP2 were set to 27604308 Phenotypes for gene: PDP2 were set to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)