{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["Za11","IL-21"],"biotype":"protein_coding","hgnc_id":"HGNC:6005","gene_name":"interleukin 21","omim_gene":["605384"],"alias_name":null,"gene_symbol":"IL21","hgnc_symbol":"IL21","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:123533783-123542224","ensembl_id":"ENSG00000138684"}},"GRch38":{"90":{"location":"4:122612628-122621069","ensembl_id":"ENSG00000138684"}}},"hgnc_date_symbol_changed":"2000-03-29"},"entity_type":"gene","entity_name":"IL21","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","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"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["IL21 deficiency (Combined variable immunodeficiency-like)","severe diarrhea and inflammatory bowel disease","Early-onset inflammatory bowel disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["Za11","IL-21"],"biotype":"protein_coding","hgnc_id":"HGNC:6005","gene_name":"interleukin 21","omim_gene":["605384"],"alias_name":null,"gene_symbol":"IL21","hgnc_symbol":"IL21","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:123533783-123542224","ensembl_id":"ENSG00000138684"}},"GRch38":{"90":{"location":"4:122612628-122621069","ensembl_id":"ENSG00000138684"}}},"hgnc_date_symbol_changed":"2000-03-29"},"entity_type":"gene","entity_name":"IL21","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["24746753"],"evidence":["IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Amber","GRID V2.0"],"phenotypes":["Immunodeficiency, common variable, 11, 615767","Severe early onset colitis, recurrent sinopulmonary infections","Immunodeficiencies affecting cellular and humoral immunity"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}}]}