{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["LRP","37LRP","p40","SA"],"biotype":"protein_coding","hgnc_id":"HGNC:6502","gene_name":"ribosomal protein SA","omim_gene":["150370"],"alias_name":null,"gene_symbol":"RPSA","hgnc_symbol":"RPSA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:39448180-39454033","ensembl_id":"ENSG00000168028"}},"GRch38":{"90":{"location":"3:39406689-39412542","ensembl_id":"ENSG00000168028"}}},"hgnc_date_symbol_changed":"2005-02-11"},"entity_type":"gene","entity_name":"RPSA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22560297","23579497"],"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"],"phenotypes":["Isolated congential asplenia 271400","Bacteremia (encapsulated bacteria)","Defects in Intrinsic and Innate Immunity"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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."}]}},{"gene_data":{"alias":["LRP","37LRP","p40","SA"],"biotype":"protein_coding","hgnc_id":"HGNC:6502","gene_name":"ribosomal protein SA","omim_gene":["150370"],"alias_name":null,"gene_symbol":"RPSA","hgnc_symbol":"RPSA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:39448180-39454033","ensembl_id":"ENSG00000168028"}},"GRch38":{"90":{"location":"3:39406689-39412542","ensembl_id":"ENSG00000168028"}}},"hgnc_date_symbol_changed":"2005-02-11"},"entity_type":"gene","entity_name":"RPSA","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Asplenia, isolated congenital, 271400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":212,"hash_id":"583c128f8f62036f70db8d29","name":"Familial non syndromic congenital heart disease","disease_group":"Cardiovascular disorders","disease_sub_group":"Congenital heart disease","status":"public","version":"1.49","version_created":"2019-08-07T15:17:24.060112Z","relevant_disorders":["Fallots tetralogy","Hypoplastic Left Heart Syndrome","Left Ventricular Outflow Tract obstruction disorders","Pulmonary atresia","Transposition of the great vessels","Familial non-syndromic congenital heart disease","Familial congenital heart disease","Congenital heart disease","Syndromic congenital heart disease","Isomerism and laterality disorders"],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}}]}