Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PEPDComment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 1:39 p.m. | Last Modified: 14 Oct 2020, 1:39 p.m.
Panel Version: 2.291
The following PubMed IDs were added to gene PEPD (OMIM gene MIM#613230): 26110198;22726576. These publications have been associated with the gene by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Red to Green from external review comment and further publications to support gene-disease associationCreated: 6 Jul 2018, 3:56 p.m.
Comment on publications: added publications to support gene-disease association, and upgrading of the gene to GreenCreated: 6 Jul 2018, 3:55 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PEPD .PanelApp HGNC gene symbol check: PEPD . IUIS Disease: Prolidase deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Autoantibodies common, chronic skin ulcers, eczema, infections. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Autoimmunity with or without LymphoproliferationCreated: 6 Jul 2018, 12:31 p.m.
Can present with infections, SLECreated: 29 Jun 2018, 10:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
prolidase deficiency
Gene: pepd has been classified as Green List (High Evidence).
Source Other was added to PEPD. Publications for gene PEPD were updated from 2365824; 1972707; 6637477; 2365824; 16470701; 8900231; 15309682; 17142620; 19308961 to 8900231; 2365824; 17142620; 26110198; 15309682; 6637477; 16470701; 19308961; 22726576; 1972707 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to PEPD.
Source North West GLH was added to PEPD.
Source London North GLH was added to PEPD.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: pepd has been classified as Green List (High Evidence).
Mode of inheritance for gene: PEPD was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: pepd has been classified as Green List (High Evidence).
Publications for gene: PEPD were set to 2365824; 1972707; 6637477; 2365824; 16470701; 8900231; 15309682; 17142620; 19308961
Publications for gene: PEPD were set to 2365824; 1972707; 6637477; 2365824; 16470701; 8900231; 15309682; 17142620; 19308961
Phenotypes for gene: PEPD were set to Prolidase deficiency, 170100; Autoantibodies common, chronic skin ulcers, eczema, infections; Diseases of Immune Dysregulation
Phenotypes for gene PEPD were set to Autoantibodies common, chronic skin ulcers, eczema, infections, Diseases of Immune Dysregulation
PEPD was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
PEPD was created by Louise Daugherty