{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RIG-I","FLJ13599","DKFZp434J1111"],"biotype":"protein_coding","hgnc_id":"HGNC:19102","gene_name":"DExD/H-box helicase 58","omim_gene":["609631"],"alias_name":["RNA helicase RIG-I","retinoic acid inducible gene I"],"gene_symbol":"DDX58","hgnc_symbol":"DDX58","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:32455300-32526322","ensembl_id":"ENSG00000107201"}},"GRch38":{"90":{"location":"9:32455705-32526324","ensembl_id":"ENSG00000107201"}}},"hgnc_date_symbol_changed":"2004-05-10"},"entity_type":"gene","entity_name":"DDX58","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["2509","3588","25620203"],"evidence":["Expert Review Amber","GDL Glaucoma panel"],"phenotypes":["Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities."],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["RIG-I","FLJ13599","DKFZp434J1111"],"biotype":"protein_coding","hgnc_id":"HGNC:19102","gene_name":"DExD/H-box helicase 58","omim_gene":["609631"],"alias_name":["RNA helicase RIG-I","retinoic acid inducible gene I"],"gene_symbol":"DDX58","hgnc_symbol":"DDX58","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:32455300-32526322","ensembl_id":"ENSG00000107201"}},"GRch38":{"90":{"location":"9:32455705-32526324","ensembl_id":"ENSG00000107201"}}},"hgnc_date_symbol_changed":"2004-05-10"},"entity_type":"gene","entity_name":"DDX58","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["25620203"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["SINGLETON-MERTEN SYNDROME 182250"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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"}]}},{"gene_data":{"alias":["RIG-I","FLJ13599","DKFZp434J1111"],"biotype":"protein_coding","hgnc_id":"HGNC:19102","gene_name":"DExD/H-box helicase 58","omim_gene":["609631"],"alias_name":["RNA helicase RIG-I","retinoic acid inducible gene I"],"gene_symbol":"DDX58","hgnc_symbol":"DDX58","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:32455300-32526322","ensembl_id":"ENSG00000107201"}},"GRch38":{"90":{"location":"9:32455705-32526324","ensembl_id":"ENSG00000107201"}}},"hgnc_date_symbol_changed":"2004-05-10"},"entity_type":"gene","entity_name":"DDX58","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["RIG-I","FLJ13599","DKFZp434J1111"],"biotype":"protein_coding","hgnc_id":"HGNC:19102","gene_name":"DExD/H-box helicase 58","omim_gene":["609631"],"alias_name":["RNA helicase RIG-I","retinoic acid inducible gene I"],"gene_symbol":"DDX58","hgnc_symbol":"DDX58","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:32455300-32526322","ensembl_id":"ENSG00000107201"}},"GRch38":{"90":{"location":"9:32455705-32526324","ensembl_id":"ENSG00000107201"}}},"hgnc_date_symbol_changed":"2004-05-10"},"entity_type":"gene","entity_name":"DDX58","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25620203","30574673"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities."],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}