{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HCA4","MAGEG1","MAGEL3","NSE3"],"biotype":"protein_coding","hgnc_id":"HGNC:7677","gene_name":"NSE3 homolog, SMC5-SMC6 complex component","omim_gene":["608243"],"alias_name":null,"gene_symbol":"NSMCE3","hgnc_symbol":"NSMCE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:29560353-29562033","ensembl_id":"ENSG00000185115"}},"GRch38":{"90":{"location":"15:29264992-29269829","ensembl_id":"ENSG00000185115"}}},"hgnc_date_symbol_changed":"2015-11-19"},"entity_type":"gene","entity_name":"NSMCE3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27427983"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","IUIS Classification February 2018"],"phenotypes":["Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241","Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity","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."}]}},{"gene_data":{"alias":["HCA4","MAGEG1","MAGEL3","NSE3"],"biotype":"protein_coding","hgnc_id":"HGNC:7677","gene_name":"NSE3 homolog, SMC5-SMC6 complex component","omim_gene":["608243"],"alias_name":null,"gene_symbol":"NSMCE3","hgnc_symbol":"NSMCE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:29560353-29562033","ensembl_id":"ENSG00000185115"}},"GRch38":{"90":{"location":"15:29264992-29269829","ensembl_id":"ENSG00000185115"}}},"hgnc_date_symbol_changed":"2015-11-19"},"entity_type":"gene","entity_name":"NSMCE3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":["HCA4","MAGEG1","MAGEL3","NSE3"],"biotype":"protein_coding","hgnc_id":"HGNC:7677","gene_name":"NSE3 homolog, SMC5-SMC6 complex component","omim_gene":["608243"],"alias_name":null,"gene_symbol":"NSMCE3","hgnc_symbol":"NSMCE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:29560353-29562033","ensembl_id":"ENSG00000185115"}},"GRch38":{"90":{"location":"15:29264992-29269829","ensembl_id":"ENSG00000185115"}}},"hgnc_date_symbol_changed":"2015-11-19"},"entity_type":"gene","entity_name":"NSMCE3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["DISTINCT DNA BREAKAGE SYNDROME"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}