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Inborn errors of metabolism

Gene: PDPR

Red List (low evidence)

PDPR (pyruvate dehydrogenase phosphatase regulatory subunit)
EnsemblGeneIds (GRCh38): ENSG00000090857
EnsemblGeneIds (GRCh37): ENSG00000090857
PDPR is in 6 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Not associated with a phenotype in OMIM or in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Created: 19 Aug 2019, 2:45 p.m. | Last Modified: 19 Aug 2019, 2:56 p.m.
Panel Version: 1.220
Comment on phenotypes: Global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Created: 19 Aug 2019, 2:42 p.m. | Last Modified: 19 Aug 2019, 2:42 p.m.
Panel Version: 1.218

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

No information on OMIM. Ensembl indicates one case of Joubert syndrome
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
Unknown

Phenotypes
Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 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)

I don't know

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Clinvar variants
Variants in PDPR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PDPR was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown

19 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pdpr has been classified as Red List (Low Evidence).

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PDPR were changed from Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PDPR were set to 27604308; 25558065

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PDPR were set to 27604308; 25558065

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PDPR. Source London North GLH was added to PDPR.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDPR Publications for gene PDPR were changed from PMID: 25558065 to 27604308; 25558065

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: PDPR was added gene: PDPR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDPR were set to PMID: 25558065