COVID-19 researchGene: IL17F
Strong evidence links IL17 to mucocutaneous immunity against fungal infection, but only one case of heterozygous IL17F mutation has been described with CMC (another family member bearing the same variant was asymptomatic)
Created: 29 Jun 2018, 7 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Comment on list classification: Green to Amber rating after further discussion with external clinical expert. Agree only one family reported, although some cellular supporting information, which is not enough evidence to make it Green
Created: 2 Jul 2018, 1:30 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IL17F .PanelApp HGNC gene symbol check: IL17F . IUIS Disease: IL-17F deficiency . IUIS Inheritance: AD .T cells: Not assessed , .B cells: N/A, .IUIS Other affected cells: T cells. IUIS Associated features: CMC, folliculitis. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Mucocutaneous Candidiasis
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external expert review and further publications to support gene-disease association
Created: 21 Jun 2018, 1:37 p.m.
Comment on mode of inheritance: PMID: 21350122 concluded that the autosomal dominant chronic mucocutaneous candidiasis in this kindred results from a hypomorphic, dominant-negative IL17F allele, which impairs the receptor binding and bioactivity of both IL17F homodimers and IL17A-IL17F heterodimers. I cannot find evidence of AR inheritance.
Created: 21 Jun 2018, 1:35 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: IL-17 F, PanelApp HGNC gene symbol check: IL17F, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Chronic mucocutaneous candidiasis (CMC) / Chronic mucocutaneous candidiasis (CMC)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IL17F, GRID_Gene_Symbol: IL17F, GRID_Transcript_ENS_Community submitted: ENST00000336123, GRID_Transcript_RefSeq: NM_052872.3, GRID_Transcript_ENS_used_on_Production: ENST00000336123
Created: 17 Apr 2018, 12:12 p.m.
Source Expert Review Green was added to IL17F. Added phenotypes CMC, folliculitis; Candidiasis, familial, 6, 613956; Defects in Intrinsic and Innate Immunity; Chronic mucocutaneous candidiasis (CMC) for gene: IL17F Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: IL17F was added gene: IL17F 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: IL17F was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IL17F were set to 32086639; 32048120; 21350122 Phenotypes for gene: IL17F were set to CMC, folliculitis; Candidiasis, familial, 6, 613956; Defects in Intrinsic and Innate Immunity; Chronic mucocutaneous candidiasis (CMC)