{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["COLEC1"],"biotype":"protein_coding","hgnc_id":"HGNC:6922","gene_name":"mannose binding lectin 2","omim_gene":["154545"],"alias_name":null,"gene_symbol":"MBL2","hgnc_symbol":"MBL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:54525140-54531460","ensembl_id":"ENSG00000165471"}},"GRch38":{"90":{"location":"10:52765380-52771700","ensembl_id":"ENSG00000165471"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"MBL2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["1458688","7707811","10888598","28347655"],"evidence":["GRID V2.0","ESID Registry 20171117","Expert Review Amber","Inherited complement deficiency v0.11","London North GLH","NHS GMS","North West GLH"],"phenotypes":["Mannose-Binding Protein Deficiency, 614372","Chronic infections, due to MBL deficiency","Mannose-binding lectin deficiency (MBL)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["curated-variant-list"],"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."}]}}]}