{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["LRRC16C"],"biotype":"protein_coding","hgnc_id":"HGNC:27089","gene_name":"capping protein regulator and myosin 1 linker 2","omim_gene":["610859"],"alias_name":["RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein","leucine rich repeat containing 16C"],"gene_symbol":"CARMIL2","hgnc_symbol":"CARMIL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:67678822-67691472","ensembl_id":"ENSG00000159753"}},"GRch38":{"90":{"location":"16:67644919-67657569","ensembl_id":"ENSG00000159753"}}},"hgnc_date_symbol_changed":"2016-04-22"},"entity_type":"gene","entity_name":"CARMIL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27896283","27647349","28112205"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Expert Review Green","ESID Registry 20171117"],"phenotypes":["Combined immunodeficiency","warts, molluscum contagiosum, and T‐cell dysfunction","EBV+ disseminated smooth muscle tumours","Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy","Diseases of Immune Dysregulation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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."}]}}]}