1. Panels
  2. Possible mitochondrial disorder - nuclear genes
  3. PDPR
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: PDPR

Red List (low evidence)
PDPR (pyruvate dehydrogenase phosphatase regulatory subunit)
EnsemblGeneIds (GRCh38): ENSG00000090857
EnsemblGeneIds (GRCh37): ENSG00000090857
PDPR is in 6 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

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

Panel version: 0.5

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:34 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Ellen McDonagh (Genomics England Curator)

Confirmed in the NHSE GMS Mitochondrial Specialist Group Meeting on 25th February 2019 that this should be Red, as no further published evidence has come out.
Created: 25 Feb 2019, 3:57 p.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).
Created: 13 Nov 2015, 3:15 p.m.
Created: 13 Nov 2015, 3:15 p.m.

Panel version: 0.8

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Manuscript is in press (personal communication)
Created: 29 Sep 2015, 7:14 a.m.
Created: 29 Sep 2015, 7:14 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

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