{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FER1L2","DFNB6"],"biotype":"protein_coding","hgnc_id":"HGNC:8515","gene_name":"otoferlin","omim_gene":["603681"],"alias_name":["fer-1-like family member 2"],"gene_symbol":"OTOF","hgnc_symbol":"OTOF","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:26680071-26781566","ensembl_id":"ENSG00000115155"}},"GRch38":{"90":{"location":"2:26457203-26558698","ensembl_id":"ENSG00000115155"}}},"hgnc_date_symbol_changed":"1999-03-31"},"entity_type":"gene","entity_name":"OTOF","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["10192385","12127154","24135434","11483641","17055430","19417007"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Sensorineural Hearing Loss (Auditory Neuropathy)","OrphaNet 90636","OMIM 601071"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":64,"hash_id":"58ee38f88f62033bda307d54","name":"ClinGen Gene Validity Curations","disease_group":"","disease_sub_group":"","status":"public","version":"0.64","version_created":"2019-06-20T15:10:34.572009Z","relevant_disorders":[],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["FER1L2","DFNB6"],"biotype":"protein_coding","hgnc_id":"HGNC:8515","gene_name":"otoferlin","omim_gene":["603681"],"alias_name":["fer-1-like family member 2"],"gene_symbol":"OTOF","hgnc_symbol":"OTOF","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:26680071-26781566","ensembl_id":"ENSG00000115155"}},"GRch38":{"90":{"location":"2:26457203-26558698","ensembl_id":"ENSG00000115155"}}},"hgnc_date_symbol_changed":"1999-03-31"},"entity_type":"gene","entity_name":"OTOF","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["10192385"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["601071"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":260,"hash_id":"55b20bdf22c1fc7dd6b9bbb7","name":"Auditory Neuropathy Spectrum Disorde","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"1.8","version_created":"2019-02-17T23:29:21.469051Z","relevant_disorders":["Auditory Neuropathy Spectrum Disorder","Auditory Neuropathy Spectrum Disorde"],"stats":{"number_of_genes":5,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FER1L2","DFNB6"],"biotype":"protein_coding","hgnc_id":"HGNC:8515","gene_name":"otoferlin","omim_gene":["603681"],"alias_name":["fer-1-like family member 2"],"gene_symbol":"OTOF","hgnc_symbol":"OTOF","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:26680071-26781566","ensembl_id":"ENSG00000115155"}},"GRch38":{"90":{"location":"2:26457203-26558698","ensembl_id":"ENSG00000115155"}}},"hgnc_date_symbol_changed":"1999-03-31"},"entity_type":"gene","entity_name":"OTOF","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:10192385","10843812","10878664","10903124","12114484","12127154","12525542","14635104","16097006","16371502","17055430","19250381","19417007","22575033","9657592"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Nonsyndromic Hearing Loss, Recessive","Deafness, autosomal recessive 9, 601071","hearing loss","Auditory neuropathy, autosomal recessive, 1, 601071"],"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)"}]}}]}