Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: IL21EnsemblGeneIds (GRCh38): ENSG00000138684
EnsemblGeneIds (GRCh37): ENSG00000138684
OMIM: 605384, Gene2Phenotype
IL21 is in 3 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: One family report for IL21 variants in early onset inflammatory bowel disease, however rated green by expert and lots of evidence regarding the role of IL21 in immune responses. Orphanet: "Disease-causing germline mutation(s) (loss of function) in Autosomal recessive early-onset inflammatory bowel disease".Created: 12 Oct 2016, 3:11 p.m.
Neil shah (GOSH)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- IL21 deficiency (Combined variable immunodeficiency-like)
- severe diarrhea and inflammatory bowel disease
- Early-onset inflammatory bowel disease
- OMIM
- 605384
- Clinvar variants
- Variants in IL21
- Penetrance
- Complete
- Publications
-
- 24746753 - family report
- 26681227 - evidence in rats with inflammatory bowel disease of the role of IL21
- 26648777 - elevated IL21 expression in CD3+ CD8+ T cells from patients with Ulcerative colitis compared to controls
- 25371082 - IL‑21KO mice were largely protected against colitis
- PMID: 25162763 "IL-21 is overproduced in many chronic inflammatory disorders, including inflammatory bowel diseases, psoriasis, rheumatoid arthritis, type I diabetes and systemic lupus erythematosus, and studies in experimental models indicate that IL-21 plays an important role in sustaining tissue-damaging immune responses in such pathologies. However, genetic deficiency of IL-21 associates with inflammatory bowel diseases and blockade of IL-21 in the early phases exacerbates the disease progression in some models of rheumatoid arthritis and systemic lupus erythematosus, thus suggesting a dual role of IL-21 in the control of immune-mediated diseases."
- PMID: 25037274
- PMID: 24796415
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IL21 were set to 24746753 - family report; 26681227 - evidence in rats with inflammatory bowel disease of the role of IL21; 26648777 - elevated IL21 expression in CD3+ CD8+ T cells from patients with Ulcerative colitis compared to controls; 25371082 - IL‑21KO mice were largely protected against colitis; PMID: 25162763 "IL-21 is overproduced in many chronic inflammatory disorders, including inflammatory bowel diseases, psoriasis, rheumatoid arthritis, type I diabetes and systemic lupus erythematosus, and studies in experimental models indicate that IL-21 plays an important role in sustaining tissue-damaging immune responses in such pathologies. However, genetic deficiency of IL-21 associates with inflammatory bowel diseases and blockade of IL-21 in the early phases exacerbates the disease progression in some models of rheumatoid arthritis and systemic lupus erythematosus, thus suggesting a dual role of IL-21 in the control of immune-mediated diseases."; PMID: 25037274;PMID: 24796415
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IL21 were set to 24746753 - family report; 26681227 - evidence in rats with inflammatory bowel disease of the role of IL21; 26648777 - elevated IL21 expression in CD3+ CD8+ T cells from patients with Ulcerative colitis compared to controls; 25371082 - IL‑21KO mice were largely protected against colitis; PMID: 25162763 "IL-21 is overproduced in many chronic inflammatory disorders, including inflammatory bowel diseases, psoriasis, rheumatoid arthritis, type I diabetes and systemic lupus erythematosus, and studies in experimental models indicate that IL-21 plays an important role in sustaining tissue-damaging immune responses in such pathologies. However, genetic deficiency of IL-21 associates with inflammatory bowel diseases and blockade of IL-21 in the early phases exacerbates the disease progression in some models of rheumatoid arthritis and systemic lupus erythematosus, thus suggesting a dual role of IL-21 in the control of immune-mediated diseases."; PMID: 25037274
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IL21 were set to 24746753 - family report; 26681227 - evidence in rats with inflammatory bowel disease of the role of IL21; 26648777 - elevated IL21 expression in CD3+ CD8+ T cells from patients with Ulcerative colitis compared to controls; 25371082 - IL‑21KO mice were largely protected against colitis; PMID: 25162763 "IL-21 is overproduced in many chronic inflammatory disorders, including inflammatory bowel diseases, psoriasis, rheumatoid arthritis, type I diabetes and systemic lupus erythematosus, and studies in experimental models indicate that IL-21 plays an important role in sustaining tissue-damaging immune responses in such pathologies. However, genetic deficiency of IL-21 associates with inflammatory bowel diseases and blockade of IL-21 in the early phases exacerbates the disease progression in some models of rheumatoid arthritis and systemic lupus erythematosus, thus suggesting a dual role of IL-21 in the control of immune-mediated diseases."
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IL21 were set to IL21 deficiency (Combined variable immunodeficiency-like); severe diarrhea and inflammatory bowel disease;Early-onset inflammatory bowel disease
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IL21 were set to IL21 deficiency (Combined variable immunodeficiency-like);severe diarrhea and inflammatory bowel disease
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IL21 were set to 24746753
Created
Ellen McDonagh (Genomics England Curator)IL21 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)IL21 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list