{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["COCH-5B2"],"biotype":"protein_coding","hgnc_id":"HGNC:2180","gene_name":"cochlin","omim_gene":["603196"],"alias_name":null,"gene_symbol":"COCH","hgnc_symbol":"COCH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:31343720-31364271","ensembl_id":"ENSG00000100473"}},"GRch38":{"90":{"location":"14:30874514-30895065","ensembl_id":"ENSG00000100473"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"COCH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["28787010","9806553","10400989","14512963","14704763","26758463"],"evidence":["Expert Review Green","Literature","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Other"],"phenotypes":["Deafness, autosomal dominant 9, 601369","cochlear-vestibular dysfunction"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["watchlist"],"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":["COCH-5B2"],"biotype":"protein_coding","hgnc_id":"HGNC:2180","gene_name":"cochlin","omim_gene":["603196"],"alias_name":null,"gene_symbol":"COCH","hgnc_symbol":"COCH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:31343720-31364271","ensembl_id":"ENSG00000100473"}},"GRch38":{"90":{"location":"14:30874514-30895065","ensembl_id":"ENSG00000100473"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"COCH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 10400989","11332404","11709536","12928864","14512963","16078052","16261627","16481359","18312449","19161137","20097680","22139968","23684986","7829101","8817345","9441737","9806553","9931344"],"evidence":["Expert Review Green","Expert","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["hearing loss","#601369:Deafness, autosomal dominant 9","Nonsyndromic Hearing Loss, Dominant"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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)"}]}}]}