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  2. Aminoacidopathy
  3. PEPD
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene-disease association with >10 individuals reported with variants in PEPD and a clinical phenotype associated with prolidase deficiency.
Prolidase deficiency is a classified inborn error of amino acid metabolism.
LoF appears to be the mechanism of disease (https://search.clinicalgenome.org/CCID:007640)
Sources: Other
Created: 19 Jul 2024, 12:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Prolidase deficiency MONDO:0008221

Publications

Created: 19 Jul 2024, 12:20 a.m.

Panel version: 1.113

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Prolidase deficiency MONDO:0008221
OMIM
613230
Clinvar variants
Variants in PEPD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2024, 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).

19 Jul 2024, 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).

19 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PEPD was added gene: PEPD was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 2365824; 19308961; 16470701 Phenotypes for gene: PEPD were set to Prolidase deficiency MONDO:0008221 Review for gene: PEPD was set to GREEN