{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RES4-23","CRBM"],"biotype":"protein_coding","hgnc_id":"HGNC:10825","gene_name":"SH3 domain binding protein 2","omim_gene":["602104"],"alias_name":null,"gene_symbol":"SH3BP2","hgnc_symbol":"SH3BP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:2794750-2842825","ensembl_id":"ENSG00000087266"}},"GRch38":{"90":{"location":"4:2793023-2841098","ensembl_id":"ENSG00000087266"}}},"hgnc_date_symbol_changed":"1996-08-01"},"entity_type":"gene","entity_name":"SH3BP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22640988","28914985","11381256","29669173"],"evidence":["IUIS Classification February 2018","ESID Registry 20171117","Victorian Clinical Genetics Services","Expert Review Red","GRID V2.0","London North GLH","NHS GMS","North West GLH"],"phenotypes":["Cherubism 118400","Other autoinflammatory diseases with known genetic defect","Bone degeneration in jaws","Autoinflammatory Disorders"],"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":["RES4-23","CRBM"],"biotype":"protein_coding","hgnc_id":"HGNC:10825","gene_name":"SH3 domain binding protein 2","omim_gene":["602104"],"alias_name":null,"gene_symbol":"SH3BP2","hgnc_symbol":"SH3BP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:2794750-2842825","ensembl_id":"ENSG00000087266"}},"GRch38":{"90":{"location":"4:2793023-2841098","ensembl_id":"ENSG00000087266"}}},"hgnc_date_symbol_changed":"1996-08-01"},"entity_type":"gene","entity_name":"SH3BP2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services","Expert list",""],"phenotypes":["Cherubism 118400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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"}]}},{"gene_data":{"alias":["RES4-23","CRBM"],"biotype":"protein_coding","hgnc_id":"HGNC:10825","gene_name":"SH3 domain binding protein 2","omim_gene":["602104"],"alias_name":null,"gene_symbol":"SH3BP2","hgnc_symbol":"SH3BP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:2794750-2842825","ensembl_id":"ENSG00000087266"}},"GRch38":{"90":{"location":"4:2793023-2841098","ensembl_id":"ENSG00000087266"}}},"hgnc_date_symbol_changed":"1996-08-01"},"entity_type":"gene","entity_name":"SH3BP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["11381256"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["Cherubism"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}