1. Panels
  2. Intellectual_disability
  3. PEPD
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual_disability

Gene: PEPD

Red List (low evidence)
PEPD (peptidase D)
EnsemblGeneIds (GRCh38): ENSG00000124299
EnsemblGeneIds (GRCh37): ENSG00000124299
OMIM: 613230, Gene2Phenotype
PEPD is in 8 panels

0 reviews

Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Prolidase deficiency, 170100
  • Intellectual disability
OMIM
613230
Clinvar variants
Variants in PEPD
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEPD was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEPD was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen