{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PC1","PC3","SPC3"],"biotype":"protein_coding","hgnc_id":"HGNC:8743","gene_name":"proprotein convertase subtilisin/kexin type 1","omim_gene":["162150"],"alias_name":["prohormone convertase 3","prohormone convertase 1","neuroendocrine convertase 1","proprotein convertase 1"],"gene_symbol":"PCSK1","hgnc_symbol":"PCSK1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:95726119-95769847","ensembl_id":"ENSG00000175426"}},"GRch38":{"90":{"location":"5:96390415-96434143","ensembl_id":"ENSG00000175426"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"PCSK1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["{Obesity, susceptibility to, BMIQ12}, 612362","Congenital Obesity","Obesity with impaired prohormone processing, 600955","{Obesity, susceptibility to, BMIQ12}, 612362"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":"55d2fc2d22c1fc2cc6635960","name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"Obesity syndromes","status":"public","version":"2.0","version_created":"2019-09-23T12:02:23.516332Z","relevant_disorders":["Significant early-onset obesity with or without other endocrine features and short stature","Significant early-onset obesity +/- other endocrine features and short stature","R149"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":3},"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":"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."}]}}]}