{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RNO2","PYPAF7","Monarch1","PAN6","CLR19.3"],"biotype":"protein_coding","hgnc_id":"HGNC:22938","gene_name":"NLR family pyrin domain containing 12","omim_gene":["609648"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"],"gene_symbol":"NLRP12","hgnc_symbol":"NLRP12","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:54296857-54327648","ensembl_id":"ENSG00000142405"}},"GRch38":{"90":{"location":"19:53793603-53824394","ensembl_id":"ENSG00000142405"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP12","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27314497","18230725","21360512","25327218","24064030"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing"],"phenotypes":["Familial cold autoinflammatory syndrome 2","611762"],"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":["RNO2","PYPAF7","Monarch1","PAN6","CLR19.3"],"biotype":"protein_coding","hgnc_id":"HGNC:22938","gene_name":"NLR family pyrin domain containing 12","omim_gene":["609648"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"],"gene_symbol":"NLRP12","hgnc_symbol":"NLRP12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54296857-54327648","ensembl_id":"ENSG00000142405"}},"GRch38":{"90":{"location":"19:53793603-53824394","ensembl_id":"ENSG00000142405"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18230725","27779193","27633793","29178652","29248470"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","GRID V2.0"],"phenotypes":["Familial cold autoinflammatory syndrome 2, 611762","preterm premature rupture of membranes (PPROM)","Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.","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."}]}}]}