{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11429","gene_name":"syntaxin 11","omim_gene":["605014"],"alias_name":null,"gene_symbol":"STX11","hgnc_symbol":"STX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:144471663-144509507","ensembl_id":"ENSG00000135604"}},"GRch38":{"90":{"location":"6:144150526-144188370","ensembl_id":"ENSG00000135604"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"STX11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15703195","16278825","16582076","24459464","20301617"],"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"],"phenotypes":["Hemophagocytic lymphohistiocytosis, familial 4, 603552","FHL4","Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)","HPLH4","HLH4","Fever, HSM, cHLH, cytopenias,","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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11429","gene_name":"syntaxin 11","omim_gene":["605014"],"alias_name":null,"gene_symbol":"STX11","hgnc_symbol":"STX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:144471663-144509507","ensembl_id":"ENSG00000135604"}},"GRch38":{"90":{"location":"6:144150526-144188370","ensembl_id":"ENSG00000135604"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"STX11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["16582076","26176172"],"evidence":["Expert Review Amber","Literature","Expert list"],"phenotypes":["Hemophagocytic lymphohistiocytosis, familial, 4 603552"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":59,"hash_id":"594a71908f620375d17ea6b2","name":"Haematological malignancies cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.19","version_created":"2019-08-06T10:21:26.792978Z","relevant_disorders":["Haemonc;Haematological malignancies pertinent cancer susceptibility"],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"},{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11429","gene_name":"syntaxin 11","omim_gene":["605014"],"alias_name":null,"gene_symbol":"STX11","hgnc_symbol":"STX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:144471663-144509507","ensembl_id":"ENSG00000135604"}},"GRch38":{"90":{"location":"6:144150526-144188370","ensembl_id":"ENSG00000135604"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"STX11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28399723"],"evidence":["Expert Review Red","North West GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":545,"hash_id":null,"name":"Bleeding and platelet disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.78","version_created":"2019-09-23T11:07:54.788299Z","relevant_disorders":["R90"],"stats":{"number_of_genes":111,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11429","gene_name":"syntaxin 11","omim_gene":["605014"],"alias_name":null,"gene_symbol":"STX11","hgnc_symbol":"STX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:144471663-144509507","ensembl_id":"ENSG00000135604"}},"GRch38":{"90":{"location":"6:144150526-144188370","ensembl_id":"ENSG00000135604"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"STX11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}