{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MAPBPIP","MAPKSP1AP","p14","ENDAP","Ragulator2"],"biotype":"protein_coding","hgnc_id":"HGNC:29796","gene_name":"late endosomal/lysosomal adaptor, MAPK and MTOR activator 2","omim_gene":["610389"],"alias_name":["mitogen activated protein binding protein interacting protein","MAPKSP1 adaptor protein","endosomal adaptor protein"],"gene_symbol":"LAMTOR2","hgnc_symbol":"LAMTOR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156024543-156028301","ensembl_id":"ENSG00000116586"}},"GRch38":{"90":{"location":"1:156054752-156058510","ensembl_id":"ENSG00000116586"}}},"hgnc_date_symbol_changed":"2011-02-15"},"entity_type":"gene","entity_name":"LAMTOR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17195838","24092934","22427693","28593997"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Immunodeficiency due to defect in MAPBP-interacting protein, 610798","Congenital neutropenia","Primary immunodeficiency syndrome due to p14 deficiency","Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure","Congenital defects of phagocyte number or function"],"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."}]}}]}