COVID-19 research
Gene: IL17RCEnsemblGeneIds (GRCh38): ENSG00000163702
EnsemblGeneIds (GRCh37): ENSG00000163702
OMIM: 610925, Gene2Phenotype
IL17RC is in 2 panels
4 reviews
Kimberly Gilmour (Great Ormond Street Hopsital)
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Tracy Briggs (Manchester Genomic Medicine Centre)
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Sophie Hambleton (Newcastle University)
Louise Daugherty (Genomics England Curator)
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IL17RC .PanelApp HGNC gene symbol check: IL17RC . IUIS Disease: IL-17RC deficiency . IUIS Inheritance: AR .T cells: Progressive decrease, .B cells: N/A, .IUIS Other affected cells: Epithelial cells, fibroblasts, mononuclear phagocytes. IUIS Associated features: CMC. 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, 1:41 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 supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IL17RC, GRID_Gene_Symbol: IL17RC, GRID_Transcript_ENS_Community submitted: ENST00000295981, GRID_Transcript_RefSeq: NM_153461.3, GRID_Transcript_ENS_used_on_Production: ENST00000295981Created: 17 Apr 2018, 12:12 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- North West GLH
- Victorian Clinical Genetics Services
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- GRID V2.0
- Phenotypes
-
- Candidiasis, familial, 9 616445
- Chronic Mucocutaneous Candidiasis
- CMC
- Defects in Intrinsic and Innate Immunity
- OMIM
- 610925
- Clinvar variants
- Variants in IL17RC
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: IL17RC was added gene: IL17RC was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL17RC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL17RC were set to 29076381; 25918342 Phenotypes for gene: IL17RC were set to Candidiasis, familial, 9 616445; Chronic Mucocutaneous Candidiasis; CMC; Defects in Intrinsic and Innate Immunity