{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ32670","LH2D1"],"biotype":"protein_coding","hgnc_id":"HGNC:26521","gene_name":"lipoxygenase homology domains 1","omim_gene":["613072"],"alias_name":null,"gene_symbol":"LOXHD1","hgnc_symbol":"LOXHD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:44056935-44236996","ensembl_id":"ENSG00000167210"}},"GRch38":{"90":{"location":"18:46476972-46657033","ensembl_id":"ENSG00000167210"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"LOXHD1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:16936105","19732867","21465660","22341973"],"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 77, 613079","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)"}]}},{"gene_data":{"alias":["FLJ32670","LH2D1"],"biotype":"protein_coding","hgnc_id":"HGNC:26521","gene_name":"lipoxygenase homology domains 1","omim_gene":["613072"],"alias_name":null,"gene_symbol":"LOXHD1","hgnc_symbol":"LOXHD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:44056935-44236996","ensembl_id":"ENSG00000167210"}},"GRch38":{"90":{"location":"18:46476972-46657033","ensembl_id":"ENSG00000167210"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"LOXHD1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Deafness, autosomal recessive 77, 613079"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}
