{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15689448"],"evidence":["Expert Review Green"],"phenotypes":["Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090","Bethlem myopathy 1","Ullrich congenital muscular dystrophy, 254090","Bethlem myopathy, 158810"],"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:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15689448"],"evidence":["NHS GMS","London South GLH","Expert Review Green","","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["Bethlem myopathy, 158810","Ullrich congenital muscular dystrophy, 254090"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":207,"hash_id":"55b117c022c1fc7dd7ce411c","name":"Congenital muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.62","version_created":"2019-10-09T12:19:40.245789Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":1,"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:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11992252"],"evidence":["","Expert Review Green","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Ullrich congenital muscular dystrophy 1 254090","Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15689448"],"evidence":["NHS GMS","London South GLH","Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Bethlem myopathy, 158810","Ullrich congenital muscular dystrophy, 254090"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":225,"hash_id":"553f94b6bb5a1616e5ed459a","name":"Congenital myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.166","version_created":"2019-10-09T12:41:32.789611Z","relevant_disorders":["R81"],"stats":{"number_of_genes":100,"number_of_strs":2,"number_of_regions":3},"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:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory"],"phenotypes":["Bethlem myopathy 1\t158810"],"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:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28306229","28306225","9536084","17886299","19949035","15563506","11992252","19564581"],"evidence":["NHS GMS","Expert Review Green","Literature"],"phenotypes":["Bethlem myopathy 1,158810","Ullrich congenital muscular dystrophy 1,254090","Myopathic EDS"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":53,"hash_id":"588728f38f62030cf7152165","name":"Ehlers Danlos syndromes","disease_group":"Rheumatological disorders","disease_sub_group":"Connective tissues disorders","status":"public","version":"2.1","version_created":"2019-10-09T07:04:44.655768Z","relevant_disorders":["Classical Ehlers Danlos Syndrome","Classical Ehlers-Danlos Syndrome","Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)","Ehlers-Danlos syndrome type 3","Kyphoscoliotic Ehlers-Danlos syndrome","EDS","Ehlers-Danlos syndromes","R101"],"stats":{"number_of_genes":75,"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":"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1","DYSTONIA 27"],"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11992252"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["DYSTONIA 27 616411","ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"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:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Gene2Phenotype confirmed gene with ID HPO"],"mode_of_inheritance":"Unknown","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"}]}}]}
