Disorders of immune dysregulation
Gene: PEPD
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
Recurrent infections, SLE.
Sources: Expert listCreated: 10 Jan 2020, 3:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Prolidase deficiency, MIM#170100
Gene: pepd has been classified as Green List (High Evidence).
Gene: pepd has been classified as Green List (High Evidence).
gene: PEPD was added gene: PEPD was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEPD were set to Prolidase deficiency, MIM#170100 Review for gene: PEPD was set to GREEN