{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0186","PSF1"],"biotype":"protein_coding","hgnc_id":"HGNC:28980","gene_name":"GINS complex subunit 1","omim_gene":["610608"],"alias_name":null,"gene_symbol":"GINS1","hgnc_symbol":"GINS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:25388363-25433264","ensembl_id":"ENSG00000101003"}},"GRch38":{"90":{"location":"20:25407727-25452628","ensembl_id":"ENSG00000101003"}}},"hgnc_date_symbol_changed":"2006-05-04"},"entity_type":"gene","entity_name":"GINS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28414293"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Expert Review Green","ESID Registry 20171117"],"phenotypes":["GINS1 deficiency","intrauterine growth retardation","chronic neutropenia","NK cell deficiency","Immunodeficiency 55, 617827","Neutropenia, IUGR, NK cells very low","Combined immunodeficiencies with associated or syndromic features"],"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."}]}}]}