{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["beta'-COP","betaprime-COP"],"biotype":"protein_coding","hgnc_id":"HGNC:2232","gene_name":"coatomer protein complex subunit beta 2","omim_gene":["606990"],"alias_name":["coatomer protein complex subunit beta prime"],"gene_symbol":"COPB2","hgnc_symbol":"COPB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:139074442-139108574","ensembl_id":"ENSG00000184432"}},"GRch38":{"90":{"location":"3:139355600-139389732","ensembl_id":"ENSG00000184432"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"COPB2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["Marom et al 2018 ASBMR: COPB2 Loss of Function Leads to Disrupted Collagen Trafficking and Juvenile Osteoporosis"],"evidence":["Expert Review Amber","NHS GMS","Expert list"],"phenotypes":["juvenile osteoporosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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."}]}}]}