Pyruvate dehydrogenase (PDH) deficiency
Gene: PDPR
PDPR (pyruvate dehydrogenase phosphatase regulatory subunit)
EnsemblGeneIds (GRCh38): ENSG00000090857
EnsemblGeneIds (GRCh37): ENSG00000090857
PDPR is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000090857
EnsemblGeneIds (GRCh37): ENSG00000090857
PDPR is in 6 panels
4 reviews
Ivone Leong (Genomics England Curator)
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: PDPR; Suggested intial gene rating: Red.Created: 1 Feb 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
None
Shamima Rahman (UCL Institute of Child Health)
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, 3:56 p.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).Created: 13 Nov 2015, 3:15 p.m.
Carl Fratter (Oxford University Hospitals NHS Trust)
Manuscript is in press (personal communication)Created: 29 Sep 2015, 7:14 a.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- NHS GMS
- Clinvar variants
- Variants in PDPR
- Penetrance
- None
- Panels with this gene
History Filter Activity
25 Feb 2019, Gel status: 1
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: pdpr has been classified as Red List (Low Evidence).
1 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PDPR was added gene: PDPR was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS Mode of inheritance for gene: PDPR was set to Unknown