Autoinflammatory disorders
Gene: IL17RAEnsemblGeneIds (GRCh38): ENSG00000177663
EnsemblGeneIds (GRCh37): ENSG00000177663
OMIM: 605461, Gene2Phenotype
IL17RA is in 3 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants have been found patients with immunodeficiency, presenting as chronic mucocutaneous candidiasis (PMID: 21350122).
Interleukin-17A (IL-17A) is a pro-inflammatory cytokine implicated in diverse autoimmune and inflammatory disorders such as psoriasis and Kawasaki disease so it is plausible that the interleukin-17A receptor (IL-17RA) could contribute to the same pathway.
Literature review did reveal multiple mouse models where IL-17RA was shown to promote the inflammatory response (PMID: 38060620; 30364284; 35844540; 38451335); however, there is no evidence of human cases where a variant in the IL17RA gene caused an autoinflammatory disorder. Therefore rating as Amber with a watchlist tag, awaiting further evidence.Created: 16 Apr 2024, 3:05 p.m. | Last Modified: 16 Apr 2024, 3:05 p.m.
Panel Version: 1.17
Lauma Freimane (Children's Clinical University Hospital)
Sources: LiteratureCreated: 19 Jun 2023, 1:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency-51
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Immunodeficiency 51, OMIM:613953
- Tags
- OMIM
- 605461
- Clinvar variants
- Variants in IL17RA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to gene: IL17RA.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: il17ra has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IL17RA were changed from Immunodeficiency-51 to Immunodeficiency 51, OMIM:613953
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauma Freimane (Children's Clinical University Hospital)gene: IL17RA was added gene: IL17RA was added to Autoinflammatory disorders. Sources: Literature Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL17RA were set to 32098966 Phenotypes for gene: IL17RA were set to Immunodeficiency-51 Review for gene: IL17RA was set to GREEN