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  2. Disorders of immune dysregulation
  3. PEPD
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Disorders of immune dysregulation

Gene: PEPD

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

2 reviews

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

Created: 7 Feb 2021, 11:21 p.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.294

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Recurrent infections, SLE.
Sources: Expert list
Created: 10 Jan 2020, 3:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Prolidase deficiency, MIM#170100

Created: 10 Jan 2020, 3:32 a.m.

Panel version: 0.15

Details

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

History Filter Activity

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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