COVID-19 researchGene: 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 Motility
Created: 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 function
Created: 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 review
Created: 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 peridontitis
Created: 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: ENST00000595042
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to FPR1. Added phenotypes Periodontitis only; Congenital defects of phagocyte number or function; Periodontitis; Localized juvenile peridontitis for gene: FPR1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: FPR1 was added gene: FPR1 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: FPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FPR1 were set to 20203610; 28371599; 8224916; 29105764; 2910576; 10882119; 32086639; 32048120 Phenotypes for gene: FPR1 were set to Periodontitis only; Congenital defects of phagocyte number or function; Periodontitis; Localized juvenile peridontitis