{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["alphaPIX","Cool-2","KIAA0006","alpha-PIX","Cool2"],"biotype":"protein_coding","hgnc_id":"HGNC:685","gene_name":"Rac/Cdc42 guanine nucleotide exchange factor 6","omim_gene":["300267"],"alias_name":["Rac/Cdc42 guanine exchange factor (GEF) 6","PAK-interacting exchange factor, alpha","rho guanine nucleotide exchange factor 6"],"gene_symbol":"ARHGEF6","hgnc_symbol":"ARHGEF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135747706-135864247","ensembl_id":"ENSG00000129675"}},"GRch38":{"90":{"location":"X:136665547-136782088","ensembl_id":"ENSG00000129675"}}},"hgnc_date_symbol_changed":"2000-07-27"},"entity_type":"gene","entity_name":"ARHGEF6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["MENTAL RETARDATION X-LINKED TYPE 46 300436"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["alphaPIX","Cool-2","KIAA0006","alpha-PIX","Cool2"],"biotype":"protein_coding","hgnc_id":"HGNC:685","gene_name":"Rac/Cdc42 guanine nucleotide exchange factor 6","omim_gene":["300267"],"alias_name":["Rac/Cdc42 guanine exchange factor (GEF) 6","PAK-interacting exchange factor, alpha","rho guanine nucleotide exchange factor 6"],"gene_symbol":"ARHGEF6","hgnc_symbol":"ARHGEF6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:135747706-135864247","ensembl_id":"ENSG00000129675"}},"GRch38":{"90":{"location":"X:136665547-136782088","ensembl_id":"ENSG00000129675"}}},"hgnc_date_symbol_changed":"2000-07-27"},"entity_type":"gene","entity_name":"ARHGEF6","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21989057","20861843","17304053","11017088"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Mental retardation, X-linked 46, 300436","Mental Retardation, X-linked","MENTAL RETARDATION X-LINKED TYPE 46"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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"}]}}]}
