{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Bronchiectasis"],"mode_of_inheritance":"","tags":[],"panel":{"id":296,"hash_id":"553f94cabb5a1616e5ed45a2","name":"Non-CF bronchiectasis","disease_group":"Ciliopathies","disease_sub_group":"Respiratory ciliopathies","status":"public","version":"1.4","version_created":"2019-06-20T15:15:14.314794Z","relevant_disorders":[],"stats":{"number_of_genes":17,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory"],"phenotypes":["Ciliary dyskinesia, primary, 15"],"mode_of_inheritance":"","tags":[],"panel":{"id":200,"hash_id":"563259de22c1fc58285b2840","name":"Familial pulmonary fibrosis","disease_group":"Respiratory disorders","disease_sub_group":"Interstitial lung disorders","status":"public","version":"1.6","version_created":"2019-08-20T14:18:14.336659Z","relevant_disorders":[],"stats":{"number_of_genes":71,"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."}]}},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":122,"hash_id":"554a0ac9bb5a167e4ccd1ec2","name":"Thoracic dystrophies","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.7","version_created":"2019-01-15T15:21:46.685111Z","relevant_disorders":[],"stats":{"number_of_genes":133,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Ciliary dyskinesia, primary, 15 (613808)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":"58c8066b8f6203413360f1cf","name":"Ductal plate malformation","disease_group":"","disease_sub_group":"","status":"public","version":"1.10","version_created":"2019-06-20T15:10:58.988548Z","relevant_disorders":["Ductal plate malformation (DPM)","Polycystic liver disease"],"stats":{"number_of_genes":150,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","Emory Genetics Laboratory","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Primary Ciliary Dyskinesia","Ciliary dyskinesia, primary, 15, 613808"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":178,"hash_id":"55a76be222c1fc6710839b9f","name":"Primary ciliary disorders","disease_group":"Ciliopathies","disease_sub_group":"Respiratory ciliopathies","status":"public","version":"1.19","version_created":"2019-06-20T15:15:15.426107Z","relevant_disorders":["Primary ciliary dyskinesia"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":549,"hash_id":null,"name":"Laterality disorders and isomerism","disease_group":"","disease_sub_group":"","status":"public","version":"0.51","version_created":"2019-09-27T19:31:06.459183Z","relevant_disorders":["R139"],"stats":{"number_of_genes":56,"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)"}]}},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Ciliary dyskinesia, primary, 15, 613808","Primary Ciliary Dyskinesia","Bronchiectasis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":550,"hash_id":null,"name":"Respiratory ciliopathies including non-CF bronchiectasis","disease_group":"","disease_sub_group":"","status":"public","version":"0.156","version_created":"2019-09-27T18:48:31.875976Z","relevant_disorders":["R189"],"stats":{"number_of_genes":61,"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)"}]}},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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"}]}},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CILIARY DYSKINESIA, PRIMARY, 15"],"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":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21131974"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CILIARY DYSKINESIA, PRIMARY, 15 613808"],"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":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Ciliary dyskinesia, primary, 15, 613808"],"mode_of_inheritance":"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"}]}},{"gene_data":{"alias":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Ciliary dyskinesia, primary, 14, 613807","ciliopathies"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":150,"hash_id":"568ea01e22c1fc1c78b6715d","name":"Rare multisystem ciliopathy disorders","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.121","version_created":"2019-09-26T13:15:06.802957Z","relevant_disorders":["Joubert syndrome","Bardet-Biedl Syndrome"],"stats":{"number_of_genes":201,"number_of_strs":0,"number_of_regions":2},"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"}]}}]}
