Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: FPR1
Some conflict in the literature, insufficient information for a Green rating at present in terms of reports of pathogenic variants Rated gene Amber for now. Will review again if further evidence to support Green rating by external expert.Created: 11 Jul 2018, 4:18 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): FPR1 .PanelApp HGNC gene symbol check: FPR1 . IUIS Disease: Localized juvenile periodontitis . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Periodontitis only. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of MotilityCreated: 2 Jul 2018, 10:35 a.m.
Comment on publications: conflict in the literature PMID: 29105764, 28371599 - no clear pathogenic variants for aggressive periodontitis due to congenital defects of phagocyte number or functionCreated: 19 Jun 2018, 3:26 p.m.
Keep Amber until more info on gene and disease association, refer to external expert review. Currently there is no known pathogenic variants for Periodontitis. Goncalves et al. (2018) PMID: 29105764 reports that several SNPs have been evaluated in different genes according to their role in the pathogenesis of the disease, with positive and negative associations (such as IL1, FCGR3B, FPR1, LTF, CYBA, GLT6D1, TLR4) with both the localized and generalized forms of aggressive periodontitis. Given the complexity of periodontitis, the difficulty in gathering large cohorts diagnosed with this rare form of disease, and the fact that candidate gene studies may only determine part of the genetic risk of a disease, the search for specific SNPs associated with aggressive periodontitis is most likely to result in the combination of multiple SNPs, in multiple genes. However this gene and disorder is listed on GRID panel and Immunological disorders panel from Victorian Clinical Genetics Services so will keep Amber for now until further expert reviewCreated: 19 Jun 2018, 3:09 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: Formyl peptide receptor, PanelApp HGNC gene symbol check: FPR1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Localized juvenile peridontitis / Localized juvenile peridontitisCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: FPR1, GRID_Gene_Symbol: FPR1, GRID_Transcript_ENS_Community submitted: ENST00000595042, GRID_Transcript_RefSeq: NM_001193306, GRID_Transcript_ENS_used_on_Production: ENST00000595042Created: 17 Apr 2018, 12:12 p.m.
Source IUIS Classification December 2019 was added to FPR1. Added phenotypes Periodontitis only; Congenital defects of phagocyte number or function for gene: FPR1 Publications for gene FPR1 were updated from 10882119; 20203610; 8224916; 2910576; 28371599; 29105764 to 20203610; 29105764; 8224916; 10882119; 32048120; 28371599; 2910576; 32086639
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: fpr1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene FPR1 were set to Periodontitis, Localized juvenile peridontitis, Periodontitis only, Congenital defects of phagocyte number or function
IUIS Classification February 2018 was added to FPR1. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to FPR1. Panel: Primary immunodeficiency disorders
Publications for gene: FPR1 were set to 10882119; 20203610; 8224916; 2910576; 28371599; 29105764
Publications for gene: FPR1 were set to 10882119; 20203610; 8224916; 2910576; 28371599
Publications for gene: FPR1 were set to 10882119; 20203610; 8224916; 2910576; 28371599; 19722801; 17927965
Publications for gene: FPR1 were set to 10882119; 20203610; 8224916; 2910576; 28371599; 19722801; 17927965
Publications for gene: FPR1 were set to 10882119; 20203610; 8224916; 2910576
Mode of inheritance for gene: FPR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FPR1 were set to 10882119; 20203610; 8224916
Expert Review Amber was added to FPR1. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to FPR1. Panel: Primary immunodeficiency disorders Phenotypes for gene FPR1 were set to Periodontitis, Localized juvenile peridontitis
Phenotypes for gene FPR1 were set to Periodontitis
FPR1 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
FPR1 was created by Louise Daugherty