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  3. PEPD
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Likely inborn error of metabolism

Gene: PEPD

Green List (high evidence)
PEPD (peptidase D)
EnsemblGeneIds (GRCh38): ENSG00000124299
EnsemblGeneIds (GRCh37): ENSG00000124299
OMIM: 613230, Gene2Phenotype
PEPD is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported.
Created: 19 Aug 2019, 3:03 p.m. | Last Modified: 19 Aug 2019, 3:03 p.m.
Panel Version: 1.222
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported.
Created: 19 Aug 2019, 3:03 p.m. | Last Modified: 19 Aug 2019, 3:03 p.m.
Panel Version: 1.222
Comment on phenotypes: Prolidase deficiency (Other disorders of peptide metabolism)
Created: 19 Aug 2019, 3:01 p.m. | Last Modified: 19 Aug 2019, 3:01 p.m.
Panel Version: 1.221
Created: 19 Aug 2019, 3:01 p.m.
Last Modified: 19 Aug 2019, 3:01 p.m.
Panel version: 1.221

Details

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

History Filter Activity

19 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701

19 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701

19 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEPD were set to 27604308

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEPD were changed from Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism) to Prolidase deficiency 170100

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PEPD. Source London North GLH was added to PEPD.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: PEPD was added gene: PEPD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 27604308 Phenotypes for gene: PEPD were set to Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism)