{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NR3A1","Era","ER-alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:3467","gene_name":"estrogen receptor 1","omim_gene":["133430"],"alias_name":["nuclear receptor subfamily 3 group A member 1","estrogen receptor alpha","oestrogen receptor alpha","E2 receptor alpha"],"gene_symbol":"ESR1","hgnc_symbol":"ESR1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:151977826-152450754","ensembl_id":"ENSG00000091831"}},"GRch38":{"90":{"location":"6:151656691-152129619","ensembl_id":"ENSG00000091831"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ESR1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Estrogen resistance, 615363","{HDL response to hormone replacement, augmented}","{Migraine, susceptibility to}, 157300","{Atherosclerosis, susceptibility to}","{Myocardial infarction, susceptibility to}, 608446","{Breast cancer}, 114480 (1)"],"mode_of_inheritance":"","tags":[],"panel":{"id":158,"hash_id":"55b62bc422c1fc05fc7a1857","name":"Familial breast cancer","disease_group":"Tumour syndromes","disease_sub_group":"Breast and endocrine","status":"public","version":"1.13","version_created":"2017-11-05T02:37:20.139339Z","relevant_disorders":["Familial breast and or ovarian cancer"],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NR3A1","Era","ER-alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:3467","gene_name":"estrogen receptor 1","omim_gene":["133430"],"alias_name":["nuclear receptor subfamily 3 group A member 1","estrogen receptor alpha","oestrogen receptor alpha","E2 receptor alpha"],"gene_symbol":"ESR1","hgnc_symbol":"ESR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:151977826-152450754","ensembl_id":"ENSG00000091831"}},"GRch38":{"90":{"location":"6:151656691-152129619","ensembl_id":"ENSG00000091831"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ESR1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28787010"],"evidence":["Literature"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":394,"hash_id":null,"name":"Familial Meniere Disease","disease_group":"Hearing and ear disorders","disease_sub_group":"Other hearing and ear disorders","status":"public","version":"1.1","version_created":"2018-01-17T16:26:29.432517Z","relevant_disorders":[],"stats":{"number_of_genes":130,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NR3A1","Era","ER-alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:3467","gene_name":"estrogen receptor 1","omim_gene":["133430"],"alias_name":["nuclear receptor subfamily 3 group A member 1","estrogen receptor alpha","oestrogen receptor alpha","E2 receptor alpha"],"gene_symbol":"ESR1","hgnc_symbol":"ESR1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:151977826-152450754","ensembl_id":"ENSG00000091831"}},"GRch38":{"90":{"location":"6:151656691-152129619","ensembl_id":"ENSG00000091831"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ESR1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Estrogen resistance, 615363","{HDL response to hormone replacement, augmented}","{Migraine, susceptibility to}, 157300","{Atherosclerosis, susceptibility to}","{Myocardial infarction, susceptibility to}, 608446","{Breast cancer}, 114480 (1)","{HDL response to hormone replacement, augmented}","{Migraine, susceptibility to}, 157300","{Atherosclerosis, susceptibility to}","{Myocardial infarction, susceptibility to}, 608446","{Breast cancer}, 114480 (1)"],"mode_of_inheritance":"","tags":[],"panel":{"id":6,"hash_id":"561518be22c1fc212900fb84","name":"Familial hypercholesterolaemia","disease_group":"Cardiovascular disorders","disease_sub_group":"Arteriopathies","status":"public","version":"1.26","version_created":"2019-10-07T15:50:14.542064Z","relevant_disorders":["Familial Hypercholesterolaemia","Familial Hypercholesterolemia"],"stats":{"number_of_genes":43,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NR3A1","Era","ER-alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:3467","gene_name":"estrogen receptor 1","omim_gene":["133430"],"alias_name":["nuclear receptor subfamily 3 group A member 1","estrogen receptor alpha","oestrogen receptor alpha","E2 receptor alpha"],"gene_symbol":"ESR1","hgnc_symbol":"ESR1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:151977826-152450754","ensembl_id":"ENSG00000091831"}},"GRch38":{"90":{"location":"6:151656691-152129619","ensembl_id":"ENSG00000091831"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ESR1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Estrogen resistance, 615363","{HDL response to hormone replacement, augmented}","{Migraine, susceptibility to}, 157300","{Atherosclerosis, susceptibility to}","{Myocardial infarction, susceptibility to}, 608446","{Breast cancer}, 114480 (1)"],"mode_of_inheritance":"","tags":[],"panel":{"id":143,"hash_id":"592843a08f6203468490fa68","name":"Inherited ovarian cancer (without breast cancer)","disease_group":"Tumour syndromes","disease_sub_group":"Breast and endocrine","status":"public","version":"2.0","version_created":"2019-08-16T09:48:34.583608Z","relevant_disorders":["Familial ovarian cancer","R207"],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":["NR3A1","Era","ER-alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:3467","gene_name":"estrogen receptor 1","omim_gene":["133430"],"alias_name":["nuclear receptor subfamily 3 group A member 1","estrogen receptor alpha","oestrogen receptor alpha","E2 receptor alpha"],"gene_symbol":"ESR1","hgnc_symbol":"ESR1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:151977826-152450754","ensembl_id":"ENSG00000091831"}},"GRch38":{"90":{"location":"6:151656691-152129619","ensembl_id":"ENSG00000091831"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ESR1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert","Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":["NR3A1","Era","ER-alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:3467","gene_name":"estrogen receptor 1","omim_gene":["133430"],"alias_name":["nuclear receptor subfamily 3 group A member 1","estrogen receptor alpha","oestrogen receptor alpha","E2 receptor alpha"],"gene_symbol":"ESR1","hgnc_symbol":"ESR1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:151977826-152450754","ensembl_id":"ENSG00000091831"}},"GRch38":{"90":{"location":"6:151656691-152129619","ensembl_id":"ENSG00000091831"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ESR1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}}]}
