{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ACHRE"],"biotype":"protein_coding","hgnc_id":"HGNC:1966","gene_name":"cholinergic receptor nicotinic epsilon subunit","omim_gene":["100725"],"alias_name":["acetylcholine receptor, nicotinic, epsilon (muscle)"],"gene_symbol":"CHRNE","hgnc_symbol":"CHRNE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:4801069-4806369","ensembl_id":"ENSG00000108556"}},"GRch38":{"90":{"location":"17:4897774-4903074","ensembl_id":"ENSG00000108556"}}},"hgnc_date_symbol_changed":"1992-04-23"},"entity_type":"gene","entity_name":"CHRNE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12417530","14719537","24295813","21175599","25792100"],"evidence":["Expert Review Green"],"phenotypes":["Myasthenic syndrome, congenital, 4B, fast-channel, 616324","Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931","Myasthenic syndrome, congenital, 4A, slow-channel, 605809","fast channel myasthenic syndrome","Myasthenic syndrome, slow-channel congenital, 601462","Acetylcholine receptor deficiency syndrome","Reduced channel conductance syndrome","Slow channel myasthenic syndrome","Congenital Myasthenic Syndrome, Dominant/Recessive"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"types":[{"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"}]}},{"gene_data":{"alias":["ACHRE"],"biotype":"protein_coding","hgnc_id":"HGNC:1966","gene_name":"cholinergic receptor nicotinic epsilon subunit","omim_gene":["100725"],"alias_name":["acetylcholine receptor, nicotinic, epsilon (muscle)"],"gene_symbol":"CHRNE","hgnc_symbol":"CHRNE","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:4801069-4806369","ensembl_id":"ENSG00000108556"}},"GRch38":{"90":{"location":"17:4897774-4903074","ensembl_id":"ENSG00000108556"}}},"hgnc_date_symbol_changed":"1992-04-23"},"entity_type":"gene","entity_name":"CHRNE","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20301347"],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Myasthenic syndrome, congenital, 4A, slow-channel 605809","Myasthenic syndrome, congenital, 4B, fast-channel 616324","Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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","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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["ACHRE"],"biotype":"protein_coding","hgnc_id":"HGNC:1966","gene_name":"cholinergic receptor nicotinic epsilon subunit","omim_gene":["100725"],"alias_name":["acetylcholine receptor, nicotinic, epsilon (muscle)"],"gene_symbol":"CHRNE","hgnc_symbol":"CHRNE","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:4801069-4806369","ensembl_id":"ENSG00000108556"}},"GRch38":{"90":{"location":"17:4897774-4903074","ensembl_id":"ENSG00000108556"}}},"hgnc_date_symbol_changed":"1992-04-23"},"entity_type":"gene","entity_name":"CHRNE","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12417530","14719537","25792100","24295813","21175599"],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","UKGTN"],"phenotypes":["Congenital Myasthenic Syndrome, Dominant/Recessive","Myasthenic syndrome, slow-channel congenital, 601462","Myasthenic syndrome, congenital, 4A, slow-channel, 605809","Myasthenic syndrome, congenital, 4B, fast-channel, 616324","Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931","Slow channel myasthenic syndrome","fast channel myasthenic syndrome","Acetylcholine receptor deficiency syndrome","Reduced channel conductance syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":232,"hash_id":"553f94c2bb5a1616e5ed459c","name":"Congenital myaesthenic syndrome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.52","version_created":"2019-08-07T14:24:09.650638Z","relevant_disorders":["Congenital myaesthenia","Congenital myasthenia"],"stats":{"number_of_genes":35,"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","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)"}]}}]}
