{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CD132"],"biotype":"protein_coding","hgnc_id":"HGNC:6010","gene_name":"interleukin 2 receptor subunit gamma","omim_gene":["308380"],"alias_name":null,"gene_symbol":"IL2RG","hgnc_symbol":"IL2RG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:70327254-70331958","ensembl_id":"ENSG00000147168"}},"GRch38":{"90":{"location":"X:71107404-71112108","ensembl_id":"ENSG00000147168"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"IL2RG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Severe combined immunodeficiency, X-linked 300400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":["gene-therapy-trial"],"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":["CD132"],"biotype":"protein_coding","hgnc_id":"HGNC:6010","gene_name":"interleukin 2 receptor subunit gamma","omim_gene":["308380"],"alias_name":null,"gene_symbol":"IL2RG","hgnc_symbol":"IL2RG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70327254-70331958","ensembl_id":"ENSG00000147168"}},"GRch38":{"90":{"location":"X:71107404-71112108","ensembl_id":"ENSG00000147168"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"IL2RG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinicalTrials.gov"],"phenotypes":["X-linked Severe Combined Immunodeficiency"],"mode_of_inheritance":"","tags":[],"panel":{"id":412,"hash_id":null,"name":"Gene therapy clinical trials","disease_group":"Actionable information","disease_sub_group":"Clinical trials","status":"public","version":"0.7","version_created":"2019-06-20T15:11:44.609881Z","relevant_disorders":[],"stats":{"number_of_genes":21,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Actionable","slug":"actionable","description":"Actionable"}]}},{"gene_data":{"alias":["CD132"],"biotype":"protein_coding","hgnc_id":"HGNC:6010","gene_name":"interleukin 2 receptor subunit gamma","omim_gene":["308380"],"alias_name":null,"gene_symbol":"IL2RG","hgnc_symbol":"IL2RG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70327254-70331958","ensembl_id":"ENSG00000147168"}},"GRch38":{"90":{"location":"X:71107404-71112108","ensembl_id":"ENSG00000147168"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"IL2RG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","UKGTN"],"phenotypes":["Inflammatory Bowel Disease (Very Early Onset)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["CD132"],"biotype":"protein_coding","hgnc_id":"HGNC:6010","gene_name":"interleukin 2 receptor subunit gamma","omim_gene":["308380"],"alias_name":null,"gene_symbol":"IL2RG","hgnc_symbol":"IL2RG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70327254-70331958","ensembl_id":"ENSG00000147168"}},"GRch38":{"90":{"location":"X:71107404-71112108","ensembl_id":"ENSG00000147168"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"IL2RG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","ESID Registry 20171117","GRID V2.0","GOSH PID v.8.0","SCID v1.6"],"phenotypes":["Combined immunodeficiency, X-linked, moderate","Severe combined immunodeficiency, X-linked","Severe combined immunodeficiency, X-linked, 300400","Severe Combined Immune Deficiency","T-B+ SCID","SCID","SCID (x-linked)","Atypical Severe Combined Immunodeficiency (Atypical SCID)","Omenn syndrome","Severe combined immunodeficiency (SCID)","Low NK","Immunodeficiencies affecting cellular and humoral immunity"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["gene-therapy-trial"],"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."}]}}]}