Miscellaneous Metabolic Disorders
Gene: PEPDEnsemblGeneIds (GRCh38): ENSG00000124299
EnsemblGeneIds (GRCh37): ENSG00000124299
OMIM: 613230, Gene2Phenotype
PEPD is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pepd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pepd has been classified as Green List (High Evidence).
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