Miscellaneous Metabolic Disorders

Gene: PEPD

Green List (high evidence)

PEPD (peptidase D)
EnsemblGeneIds (GRCh38): ENSG00000124299
EnsemblGeneIds (GRCh37): ENSG00000124299
OMIM: 613230, Gene2Phenotype
PEPD is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Prolidase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of peptide metabolism.
Sources: NHS GMS
Created: 7 Feb 2021, 11:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Prolidase deficiency MIM#170100; disorders of peptide metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Prolidase deficiency MIM#170100
  • disorders of peptide metabolism
OMIM
613230
Clinvar variants
Variants in PEPD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pepd has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pepd has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PEPD was added gene: PEPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 27604308; 2365824 Phenotypes for gene: PEPD were set to Prolidase deficiency MIM#170100; disorders of peptide metabolism Review for gene: PEPD was set to GREEN gene: PEPD was marked as current diagnostic