{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["JTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:12440","gene_name":"tyrosine kinase 2","omim_gene":["176941"],"alias_name":null,"gene_symbol":"TYK2","hgnc_symbol":"TYK2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10461209-10491352","ensembl_id":"ENSG00000105397"}},"GRch38":{"90":{"location":"19:10350529-10380676","ensembl_id":"ENSG00000105397"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"TYK2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Hyper IgE syndromes"],"mode_of_inheritance":"","tags":[],"panel":{"id":62,"hash_id":"553f95d0bb5a1616e5ed45c1","name":"Severe multi-system atopic disease with high IgE","disease_group":"Dermatological disorders","disease_sub_group":"Atopy","status":"public","version":"1.7","version_created":"2017-11-05T02:37:19.949470Z","relevant_disorders":[],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["JTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:12440","gene_name":"tyrosine kinase 2","omim_gene":["176941"],"alias_name":null,"gene_symbol":"TYK2","hgnc_symbol":"TYK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10461209-10491352","ensembl_id":"ENSG00000105397"}},"GRch38":{"90":{"location":"19:10350529-10380676","ensembl_id":"ENSG00000105397"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"TYK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Other"],"phenotypes":["Crohn disease"],"mode_of_inheritance":"","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":["JTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:12440","gene_name":"tyrosine kinase 2","omim_gene":["176941"],"alias_name":null,"gene_symbol":"TYK2","hgnc_symbol":"TYK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10461209-10491352","ensembl_id":"ENSG00000105397"}},"GRch38":{"90":{"location":"19:10350529-10380676","ensembl_id":"ENSG00000105397"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"TYK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17088085","22402565","26304966"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Immunodeficiency 35 611521","Hyper IgE syndrome (HIES)","Susceptibility to intracellular bacteria (mycobacteria, Salmonella), viruses, +/- elevated IgE","Defects in Intrinsic and Innate 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."}]}}]}