Pyruvate dehydrogenase (PDH) deficiency

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

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: PDR2; Suggested intial gene rating: Red.
Created: 1 Feb 2019, 2:42 p.m.

Mode of inheritance


Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

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

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.

History Filter Activity

1 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PDP2 was added gene: PDP2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS Mode of inheritance for gene: PDP2 was set to Unknown