1. Panels
  2. Molecular autopsy
  3. PDP2
Genes in panel
Prev Next
STRs in panel
Prev Next

Molecular autopsy

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
OMIM
615499
Clinvar variants
Variants in PDP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDP2

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PDP2 was added gene: PDP2 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: PDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP2 were set to 27604308 Phenotypes for gene: PDP2 were set to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)