{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ14736","JPO1"],"biotype":"protein_coding","hgnc_id":"HGNC:14628","gene_name":"cell division cycle associated 7","omim_gene":["609937"],"alias_name":null,"gene_symbol":"CDCA7","hgnc_symbol":"CDCA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:174219548-174233725","ensembl_id":"ENSG00000144354"}},"GRch38":{"90":{"location":"2:173354820-173368997","ensembl_id":"ENSG00000144354"}}},"hgnc_date_symbol_changed":"2002-04-03"},"entity_type":"gene","entity_name":"CDCA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29339483","28128455","27328760","26216346","29659838","15952214","1999836","26216346"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Expert Review Green","Literature"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome","ICF","Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910","ICF3","immunodeficiency, centromeric instability, facial anomalies syndrome type 3","recurrent respiratory infections","hypogammaglobulinaemia","enteropathy","Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies,  multiradial configurations of chromosomes 1, 9, 16","Combined immunodeficiencies with associated or syndromic features"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"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."}]}}]}
