Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: DPEP1

Red List (low evidence)

DPEP1 (dipeptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000015413
EnsemblGeneIds (GRCh37): ENSG00000015413
OMIM: 179780, Gene2Phenotype
DPEP1 is in 2 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not associated with a disease in OMIM, Gene2Phenotype or Orphanet. Publications linking the gene to cancer and as a biomarker for cancers (e.g. PMID: 23839495). PMID: 24790760 reports DPEP1 as a potential biomarker for noninvasive diagnosis of Focal segmental glomerulosclerosis (FSGS) - DPEP1 was completely absent in urine proteome of FSGS subjects compared with healthy and disease controls. Could not find evidence for genetic variants causing a monogenic metabolic disorder.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance



Mode of Inheritance
  • London North GLH
  • Expert Review Red
  • Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle)
Clinvar variants
Variants in DPEP1
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DPEP1. Source London North GLH was added to DPEP1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DPEP1 was added gene: DPEP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DPEP1 was set to Unknown Publications for gene: DPEP1 were set to 27604308 Phenotypes for gene: DPEP1 were set to Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle)