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Inborn errors 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

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

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.

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.

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)