{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:18971","gene_name":"adaptor related protein complex 1 sigma 3 subunit","omim_gene":["615781"],"alias_name":null,"gene_symbol":"AP1S3","hgnc_symbol":"AP1S3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:224616403-224702744","ensembl_id":"ENSG00000152056"}},"GRch38":{"90":{"location":"2:223751686-223838027","ensembl_id":"ENSG00000152056"}}},"hgnc_date_symbol_changed":"2002-12-17"},"entity_type":"gene","entity_name":"AP1S3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24791904","27388993"],"evidence":["Expert Review Red","Literature","Research"],"phenotypes":["{Psoriasis 15, pustular, susceptibility to}\t616106"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["monogenic-polygenic"],"panel":{"id":132,"hash_id":"5616435a22c1fc212900fbd1","name":"Generalised pustular psoriasis","disease_group":"Dermatological disorders","disease_sub_group":"Autoimmune skin disorders","status":"public","version":"1.8","version_created":"2017-11-05T02:37:20.087444Z","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:18971","gene_name":"adaptor related protein complex 1 sigma 3 subunit","omim_gene":["615781"],"alias_name":null,"gene_symbol":"AP1S3","hgnc_symbol":"AP1S3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:224616403-224702744","ensembl_id":"ENSG00000152056"}},"GRch38":{"90":{"location":"2:223751686-223838027","ensembl_id":"ENSG00000152056"}}},"hgnc_date_symbol_changed":"2002-12-17"},"entity_type":"gene","entity_name":"AP1S3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["North West GLH","London North GLH","NHS GMS","Expert Review Amber","IUIS Classification February 2018","Victorian Clinical Genetics Services"],"phenotypes":["Pustular psoriasis, 616106","Autoinflammatory Disorders"],"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."}]}}]}