{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:914","gene_name":"beta-2-microglobulin","omim_gene":["109700"],"alias_name":null,"gene_symbol":"B2M","hgnc_symbol":"B2M","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:45003675-45011075","ensembl_id":"ENSG00000166710"}},"GRch38":{"90":{"location":"15:44711477-44718877","ensembl_id":"ENSG00000166710"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"B2M","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22693999"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["?Amyloidosis, familial visceral   105200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":60,"hash_id":"55a6566d22c1fc6710839b9c","name":"Periodic fever syndromes","disease_group":"Rheumatological disorders","disease_sub_group":"Multi-system inflammatory/autoimmune disorders","status":"public","version":"1.12","version_created":"2019-09-26T14:18:15.825616Z","relevant_disorders":["Periodic fever syndromes and amyloidosis"],"stats":{"number_of_genes":30,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:914","gene_name":"beta-2-microglobulin","omim_gene":["109700"],"alias_name":null,"gene_symbol":"B2M","hgnc_symbol":"B2M","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45003675-45011075","ensembl_id":"ENSG00000166710"}},"GRch38":{"90":{"location":"15:44711477-44718877","ensembl_id":"ENSG00000166710"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"B2M","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22693999"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["?Amyloidosis, familial visceral 105200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":502,"hash_id":null,"name":"Amyloidosis","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-10-08T13:14:16.304813Z","relevant_disorders":["R204"],"stats":{"number_of_genes":10,"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":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:914","gene_name":"beta-2-microglobulin","omim_gene":["109700"],"alias_name":null,"gene_symbol":"B2M","hgnc_symbol":"B2M","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45003675-45011075","ensembl_id":"ENSG00000166710"}},"GRch38":{"90":{"location":"15:44711477-44718877","ensembl_id":"ENSG00000166710"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"B2M","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["4186801","25702838"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","GRID V2.0"],"phenotypes":["Immunodeficiency 43,241600","Immunodeficiency by defective expression of HLA class 1","Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c","Immunodeficiencies affecting cellular and humoral immunity"],"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."}]}}]}
