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Possible mitochondrial disorder - nuclear genes

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.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
Unknown

Phenotypes
None

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.

Details

Mode of Inheritance
Unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • None
OMIM
615499
Clinvar variants
Variants in PDP2
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: PDP2 was added gene: PDP2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PDP2 was set to Unknown Phenotypes for gene: PDP2 were set to None