Autoinflammatory disorders

Gene: IL17RA

Amber List (moderate evidence)

IL17RA (interleukin 17 receptor A)
EnsemblGeneIds (GRCh38): ENSG00000177663
EnsemblGeneIds (GRCh37): ENSG00000177663
OMIM: 605461, Gene2Phenotype
IL17RA is in 4 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)

Green List (high evidence)

Sources: Literature
Created: 19 Jun 2023, 1:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal




Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Immunodeficiency 51, OMIM:613953
Clinvar variants
Variants in IL17RA
Panels with this gene

History Filter Activity

16 Apr 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: IL17RA.

16 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: il17ra has been classified as Amber List (Moderate Evidence).

16 Apr 2024, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IL17RA were changed from Immunodeficiency-51 to Immunodeficiency 51, OMIM:613953

19 Jun 2023, Gel status: 0

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