Likely inborn error of metabolism

Gene: PDPR

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

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

• 27604308

Green List (high evidence)

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.

I don't know

Manuscript is in press (personal communication)

Created: 29 Sep 2015, 7:14 a.m.