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Primary immunodeficiency

Gene: IL17F

Amber List (moderate evidence)

IL17F (interleukin 17F)
EnsemblGeneIds (GRCh38): ENSG00000112116
EnsemblGeneIds (GRCh37): ENSG00000112116
OMIM: 606496, Gene2Phenotype
IL17F is in 3 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Sophie Hambleton (Newcastle University)

Red List (low evidence)

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

Louise Daugherty (Genomics England Curator)

I don't know

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Candidiasis, familial, 6, 613956
  • Chronic mucocutaneous candidiasis (CMC)
  • Defects in Intrinsic and Innate Immunity
  • CMC, folliculitis
OMIM
606496
Clinvar variants
Variants in IL17F
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

2 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: il17f has been classified as Amber List (Moderate Evidence).

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IL17F were set to Candidiasis, familial, 6, 613956, Chronic mucocutaneous candidiasis (CMC), CMC, folliculitis, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to IL17F. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to IL17F. Panel: Primary immunodeficiency disorders

21 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: il17f has been classified as Green List (High Evidence).

21 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: il17f has been classified as Green List (High Evidence).

21 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IL17F were set to 21350122

21 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: IL17F was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IL17F were set to Candidiasis, familial, 6, 613956; Chronic mucocutaneous candidiasis (CMC)

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to IL17F. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IL17F were set to Candidiasis, familial, 6

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IL17F was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IL17F was created by Louise Daugherty