{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CRF2-4","CDW210B","IL-10R2"],"biotype":"protein_coding","hgnc_id":"HGNC:5965","gene_name":"interleukin 10 receptor subunit beta","omim_gene":["123889"],"alias_name":null,"gene_symbol":"IL10RB","hgnc_symbol":"IL10RB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"21:34638663-34669539","ensembl_id":"ENSG00000243646"}},"GRch38":{"90":{"location":"21:33266358-33310187","ensembl_id":"ENSG00000243646"}}},"hgnc_date_symbol_changed":"1993-04-06"},"entity_type":"gene","entity_name":"IL10RB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27302973","21519361","19890111"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Eligibility statement prior genetic testing","Expert list"],"phenotypes":["IL-10 signalling defects / deficiency","Inflammatory bowel disease 25, early onset, autosomal recessive 612567"],"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":["CRF2-4","CDW210B","IL-10R2"],"biotype":"protein_coding","hgnc_id":"HGNC:5965","gene_name":"interleukin 10 receptor subunit beta","omim_gene":["123889"],"alias_name":null,"gene_symbol":"IL10RB","hgnc_symbol":"IL10RB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34638663-34669539","ensembl_id":"ENSG00000243646"}},"GRch38":{"90":{"location":"21:33266358-33310187","ensembl_id":"ENSG00000243646"}}},"hgnc_date_symbol_changed":"1993-04-06"},"entity_type":"gene","entity_name":"IL10RB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19890111","21519361"],"evidence":["Expert Review Green","Other","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Inflammatory bowel disease 25, early onset, autosomal recessive, 612567","Inflammatory Bowel Disease","Inflammatory Bowel Disease (Very Early Onset)","Inflammatory bowel disease 25, early onset, autosomal recessive","Ulcerative Colitis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":33,"hash_id":"56ba026422c1fc5025762b4f","name":"Gastrointestinal epithelial barrier disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.59","version_created":"2019-06-20T15:11:44.535737Z","relevant_disorders":[],"stats":{"number_of_genes":82,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CRF2-4","CDW210B","IL-10R2"],"biotype":"protein_coding","hgnc_id":"HGNC:5965","gene_name":"interleukin 10 receptor subunit 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lymphoma","Diseases of Immune Dysregulation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["early-onset"],"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."}]}}]}
