{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1965","gene_name":"cholinergic receptor nicotinic delta subunit","omim_gene":["100720"],"alias_name":["acetylcholine receptor, nicotinic, delta (muscle)"],"gene_symbol":"CHRND","hgnc_symbol":"CHRND","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233390703-233401377","ensembl_id":"ENSG00000135902"}},"GRch38":{"90":{"location":"2:232525993-232536667","ensembl_id":"ENSG00000135902"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CHRND","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["11435464","11782989","16916845"],"evidence":["Expert Review Green"],"phenotypes":["?Myasthenic syndrome, congenital, 3A, slow-channel, 616321","?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323","Myasthenic syndrome, congenital, 3B, fast-channel, 616322","fast channel myasthenic syndrome","Myasthenic syndrome, slow-channel congenital, 601462","Acetylcholine receptor deficiency 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1965","gene_name":"cholinergic receptor nicotinic delta subunit","omim_gene":["100720"],"alias_name":["acetylcholine receptor, nicotinic, delta (muscle)"],"gene_symbol":"CHRND","hgnc_symbol":"CHRND","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:233390703-233401377","ensembl_id":"ENSG00000135902"}},"GRch38":{"90":{"location":"2:232525993-232536667","ensembl_id":"ENSG00000135902"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CHRND","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["20301347","16916845"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Expert list"],"phenotypes":["Myasthenic syndrome, congenital, 3A, slow-channel 616321","?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 616323","Multiple pterygium syndrome, lethal type 253290","Myasthenic syndrome, congenital, 3B, fast-channel 616322"],"mode_of_inheritance":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1965","gene_name":"cholinergic receptor nicotinic delta subunit","omim_gene":["100720"],"alias_name":["acetylcholine receptor, nicotinic, delta (muscle)"],"gene_symbol":"CHRND","hgnc_symbol":"CHRND","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:233390703-233401377","ensembl_id":"ENSG00000135902"}},"GRch38":{"90":{"location":"2:232525993-232536667","ensembl_id":"ENSG00000135902"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CHRND","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["16916845","11782989","11435464"],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Congenital Myasthenic Syndrome, Dominant/Recessive","Myasthenic syndrome, slow-channel congenital, 601462","Slow channel myasthenic syndrome","fast channel myasthenic syndrome","Acetylcholine receptor deficiency syndrome","?Myasthenic syndrome, congenital, 3A, slow-channel, 616321","?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323","Myasthenic syndrome, congenital, 3B, fast-channel, 616322"],"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)"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1965","gene_name":"cholinergic receptor nicotinic delta subunit","omim_gene":["100720"],"alias_name":["acetylcholine receptor, nicotinic, delta (muscle)"],"gene_symbol":"CHRND","hgnc_symbol":"CHRND","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233390703-233401377","ensembl_id":"ENSG00000135902"}},"GRch38":{"90":{"location":"2:232525993-232536667","ensembl_id":"ENSG00000135902"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CHRND","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11782989"],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review"],"phenotypes":["Myasthenic syndrome, congenital, 3A, slow-channel, 616321","Congenital myasthenic syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":185,"hash_id":"55b7a65322c1fc05fc7a1869","name":"Limb girdle muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.89","version_created":"2019-06-20T15:15:12.994579Z","relevant_disorders":[],"stats":{"number_of_genes":84,"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)"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1965","gene_name":"cholinergic receptor nicotinic delta subunit","omim_gene":["100720"],"alias_name":["acetylcholine receptor, nicotinic, delta (muscle)"],"gene_symbol":"CHRND","hgnc_symbol":"CHRND","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233390703-233401377","ensembl_id":"ENSG00000135902"}},"GRch38":{"90":{"location":"2:232525993-232536667","ensembl_id":"ENSG00000135902"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CHRND","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11435464","18252226"],"evidence":["NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["Multiple pterygium syndrome, lethal type, 253290"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":547,"hash_id":null,"name":"Neuromuscular arthrogryposis","disease_group":"","disease_sub_group":"","status":"public","version":"0.19","version_created":"2019-08-01T14:55:50.898576Z","relevant_disorders":[],"stats":{"number_of_genes":40,"number_of_strs":0,"number_of_regions":0},"types":[{"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1965","gene_name":"cholinergic receptor nicotinic delta subunit","omim_gene":["100720"],"alias_name":["acetylcholine receptor, nicotinic, delta (muscle)"],"gene_symbol":"CHRND","hgnc_symbol":"CHRND","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233390703-233401377","ensembl_id":"ENSG00000135902"}},"GRch38":{"90":{"location":"2:232525993-232536667","ensembl_id":"ENSG00000135902"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CHRND","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE Additional Gene List","Expert Review Green"],"phenotypes":["Several associated, probably most relevant is lethal multiple pterygium syndrome 253290"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"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."}]}}]}