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  3. PDP2
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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

5 reviews

Sarah Leigh (Genomics England Curator)

Created: 17 Mar 2021, 3:40 p.m.
Last Modified: 17 Mar 2021, 3:41 p.m.
Panel version: 1.29

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
Unknown

Phenotypes
None

Created: 1 Feb 2019, 2:42 p.m.

Panel version: 0.3

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

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
Unknown
Sources
  • NHS GMS
Phenotypes
  • pyruvate dehydrogenase deficiency MONDO:0019169
OMIM
615499
Clinvar variants
Variants in PDP2
Penetrance
None
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PDP2 were changed from to pyruvate dehydrogenase deficiency MONDO:0019169

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