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Molecular autopsy

Gene: PEPD

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Prolidase deficiency (Other disorders of peptide metabolism)
OMIM
613230
Clinvar variants
Variants in PEPD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism) for gene: PEPD

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: PEPD was added gene: PEPD was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 27604308 Phenotypes for gene: PEPD were set to Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism)