{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PTI","CAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8950","gene_name":"serpin family B member 6","omim_gene":["173321"],"alias_name":["cytoplasmic antiproteinase"],"gene_symbol":"SERPINB6","hgnc_symbol":"SERPINB6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:2948393-2972090","ensembl_id":"ENSG00000124570"}},"GRch38":{"90":{"location":"6:2948159-2972165","ensembl_id":"ENSG00000124570"}}},"hgnc_date_symbol_changed":"1994-07-20"},"entity_type":"gene","entity_name":"SERPINB6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 25719458","15082799","20451170","PMID: 23669344 (homozygous-null mice have hearing impairmemt from 3 weeks of age, associated with progressive cellular degeneration within the cochlea)","24963352","7601482","7608171","7724531","8415716","8530031","8614560"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["hearing loss","Deafness, autosomal recessive 91, 613453"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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 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 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."},{"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)"}]}}]}