{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["EN-7"],"biotype":"protein_coding","hgnc_id":"HGNC:9802","gene_name":"Rac family small GTPase 2","omim_gene":["602049"],"alias_name":null,"gene_symbol":"RAC2","hgnc_symbol":"RAC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37621301-37640488","ensembl_id":"ENSG00000128340"}},"GRch38":{"90":{"location":"22:37225261-37244448","ensembl_id":"ENSG00000128340"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"RAC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["10961859","10758162","21167572","25512081"],"evidence":["Expert Review Amber","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0","SCID v1.6","Congenital neutropaenia v1.22","Combined B and T cell defect v1.12"],"phenotypes":["T-B- SCID","T-B+ SCID","Neutrophil immunodeficiency syndrome 608203","Neutrophil immunodeficiency syndrome","RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2)","Poor wound healing, leukocytosis","Congenital defects of phagocyte number or function"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["watchlist"],"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":["EN-7"],"biotype":"protein_coding","hgnc_id":"HGNC:9802","gene_name":"Rac family small GTPase 2","omim_gene":["602049"],"alias_name":null,"gene_symbol":"RAC2","hgnc_symbol":"RAC2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:37621301-37640488","ensembl_id":"ENSG00000128340"}},"GRch38":{"90":{"location":"22:37225261-37244448","ensembl_id":"ENSG00000128340"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"RAC2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Neutrophil immunodeficiency syndrome, 608203"],"mode_of_inheritance":"","tags":[],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["EN-7"],"biotype":"protein_coding","hgnc_id":"HGNC:9802","gene_name":"Rac family small GTPase 2","omim_gene":["602049"],"alias_name":null,"gene_symbol":"RAC2","hgnc_symbol":"RAC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37621301-37640488","ensembl_id":"ENSG00000128340"}},"GRch38":{"90":{"location":"22:37225261-37244448","ensembl_id":"ENSG00000128340"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"RAC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Amber","Wessex and West Midlands GLH"],"phenotypes":["Neutrophil immunodeficiency syndrome, 608203"],"mode_of_inheritance":"","tags":[],"panel":{"id":519,"hash_id":null,"name":"Cytopenia - 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