Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL17F
Single family, variant did not fully segregate with phenotype, and also note 17 heterozygotes in gnomad, which is also concerning.Created: 10 Apr 2020, 8 a.m. | Last Modified: 10 Apr 2020, 8 a.m.
Panel Version: 2.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Publications
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 GreenCreated: 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 CandidiasisCreated: 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 associationCreated: 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: ENST00000336123Created: 17 Apr 2018, 12:12 p.m.
Source IUIS Classification December 2019 was added to IL17F. Added phenotypes CMC, folliculitis for gene: IL17F Publications for gene IL17F were updated from 21350122 to 32048120; 21350122; 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: il17f has been classified as Amber List (Moderate Evidence).
Phenotypes for gene IL17F were set to Candidiasis, familial, 6, 613956, Chronic mucocutaneous candidiasis (CMC), CMC, folliculitis, Defects in Intrinsic and Innate Immunity
IUIS Classification February 2018 was added to IL17F. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to IL17F. Panel: Primary immunodeficiency disorders
Gene: il17f has been classified as Green List (High Evidence).
Gene: il17f has been classified as Green List (High Evidence).
Publications for gene: IL17F were set to 21350122
Mode of inheritance for gene: IL17F was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IL17F were set to Candidiasis, familial, 6, 613956; Chronic mucocutaneous candidiasis (CMC)
Expert Review Amber was added to IL17F. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to IL17F. Panel: Primary immunodeficiency disorders Phenotypes for gene IL17F were set to Candidiasis, familial, 6, Chronic mucocutaneous candidiasis (CMC)
Phenotypes for gene IL17F were set to Candidiasis, familial, 6
IL17F was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
IL17F was created by Louise Daugherty