{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["COMT2","CFAP111"],"biotype":"protein_coding","hgnc_id":"HGNC:25033","gene_name":"leucine rich transmembrane and O-methyltransferase domain containing","omim_gene":["612414"],"alias_name":null,"gene_symbol":"LRTOMT","hgnc_symbol":"LRTOMT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:71791382-71821828","ensembl_id":"ENSG00000184154"}},"GRch38":{"90":{"location":"11:72080331-72110782","ensembl_id":"ENSG00000184154"}}},"hgnc_date_symbol_changed":"2008-11-27"},"entity_type":"gene","entity_name":"LRTOMT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18953341","18794526","21739586","18953341","18794526","21739586","23053991","18794526","18953341","18794526"],"evidence":["ClinGen","Expert Review Green","Other"],"phenotypes":["Sensorineural hearing loss","OrphaNet: ORPHA90636","OMIM:611451"],"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":["COMT2","CFAP111"],"biotype":"protein_coding","hgnc_id":"HGNC:25033","gene_name":"leucine rich transmembrane and O-methyltransferase domain containing","omim_gene":["612414"],"alias_name":null,"gene_symbol":"LRTOMT","hgnc_symbol":"LRTOMT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:71791382-71821828","ensembl_id":"ENSG00000184154"}},"GRch38":{"90":{"location":"11:72080331-72110782","ensembl_id":"ENSG00000184154"}}},"hgnc_date_symbol_changed":"2008-11-27"},"entity_type":"gene","entity_name":"LRTOMT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:17066295","17166180","17211611","18794526","18953341"],"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 63, 611451","hearing loss"],"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)"}]}}]}
