{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MORT1","GIG3"],"biotype":"protein_coding","hgnc_id":"HGNC:3573","gene_name":"Fas associated via death domain","omim_gene":["602457"],"alias_name":["Fas-associating protein with death domain","Fas-associating death domain-containing protein","mediator of receptor-induced toxicity","growth-inhibiting gene 3 protein"],"gene_symbol":"FADD","hgnc_symbol":"FADD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:70049269-70053496","ensembl_id":"ENSG00000168040"}},"GRch38":{"90":{"location":"11:70203163-70207390","ensembl_id":"ENSG00000168040"}}},"hgnc_date_symbol_changed":"1999-05-07"},"entity_type":"gene","entity_name":"FADD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21109225","17656375","25794656"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759","ALPS-like disease","functional hyposplenism","invasive pneumococcal disease","para-infectious encephalopathy and hepatopathy","cardiovascular malformations","Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction","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."}]}},{"gene_data":{"alias":["MORT1","GIG3"],"biotype":"protein_coding","hgnc_id":"HGNC:3573","gene_name":"Fas associated via death domain","omim_gene":["602457"],"alias_name":["Fas-associating protein with death domain","Fas-associating death domain-containing protein","mediator of receptor-induced toxicity","growth-inhibiting gene 3 protein"],"gene_symbol":"FADD","hgnc_symbol":"FADD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:70049269-70053496","ensembl_id":"ENSG00000168040"}},"GRch38":{"90":{"location":"11:70203163-70207390","ensembl_id":"ENSG00000168040"}}},"hgnc_date_symbol_changed":"1999-05-07"},"entity_type":"gene","entity_name":"FADD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17656375"],"evidence":["NHS GMS"],"phenotypes":["None","Iris coloboma, retinal coloboma"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}
