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| Autoinflammatory disorders v1.17 | IL17RA | Arina Puzriakova Tag watchlist tag was added to gene: IL17RA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.17 | IL17RA | Arina Puzriakova Classified gene: IL17RA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.17 | IL17RA |
Arina Puzriakova Added comment: 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. |
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| Autoinflammatory disorders v1.17 | IL17RA | Arina Puzriakova Gene: il17ra has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.16 | IL17RA | Arina Puzriakova Phenotypes for gene: IL17RA were changed from Immunodeficiency-51 to Immunodeficiency 51, OMIM:613953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v1.1 | IL17RA |
Lauma Freimane 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 Added comment: Sources: Literature |
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