{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Emory Genetics Laboratory","Eligibility statement prior genetic testing"],"phenotypes":["Coenzyme Q10 deficiency, primary, 6 614650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":156,"hash_id":"5693974122c1fc251660fb1f","name":"Unexplained kidney failure in young people","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.73","version_created":"2019-07-17T16:13:42.477129Z","relevant_disorders":["Familial IgA nephropathy and IgA vasculitis","End-stage renal disease - childhood onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Coenzyme Q10 deficiency, primary, 6 614650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":493,"hash_id":null,"name":"Renal and urinary tract disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.18","version_created":"2019-07-04T13:55:26.963386Z","relevant_disorders":[],"stats":{"number_of_genes":177,"number_of_strs":0,"number_of_regions":3},"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":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Coenzyme Q10 deficiency, primary, 6 614650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":678,"hash_id":null,"name":"Unexplained paediatric onset end-stage renal disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.43","version_created":"2019-09-25T12:25:36.245604Z","relevant_disorders":["R257"],"stats":{"number_of_genes":229,"number_of_strs":0,"number_of_regions":3},"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":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Steroid-resistant nephrotic syndrome","Disorders of ubiquinone metabolism and biosynthesis","Coenzyme Q10 deficiency, primary, 6, 614650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Coenzyme Q10 deficiency, primary, 6, 614650","Steroid-resistant nephrotic syndrome","Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Disorders of ubiquinone metabolism and biosynthesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"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":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Coenzyme Q10 deficiency, primary, 6, 614650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":539,"hash_id":null,"name":"Possible mitochondrial disorder - nuclear genes","disease_group":"","disease_sub_group":"","status":"public","version":"1.12","version_created":"2019-09-16T14:57:01.996850Z","relevant_disorders":["R63"],"stats":{"number_of_genes":374,"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":"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":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Coenzyme Q10 deficiency, primary, 6, 614650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 21540551"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","Expert list","Expert"],"phenotypes":["Steroid-resistant nephrotic syndrome","Disorders of ubiquinone metabolism and biosynthesis","Coenzyme Q10 deficiency, primary, 6, 614650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":"55928cf522c1fc4f7d26e960","name":"Mitochondrial disorders","disease_group":"Metabolic disorders","disease_sub_group":"Mitochondrial","status":"public","version":"2.1","version_created":"2019-10-01T15:59:44.993681Z","relevant_disorders":["Lactic acidosis","All recognised syndromes and those with suggestive features"],"stats":{"number_of_genes":467,"number_of_strs":2,"number_of_regions":1},"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"},{"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":["CGI-10"],"biotype":"protein_coding","hgnc_id":"HGNC:20233","gene_name":"coenzyme Q6, monooxygenase","omim_gene":["614647"],"alias_name":null,"gene_symbol":"COQ6","hgnc_symbol":"COQ6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:74416629-74430373","ensembl_id":"ENSG00000119723"}},"GRch38":{"90":{"location":"14:73949926-73963670","ensembl_id":"ENSG00000119723"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21540551"],"evidence":["NHS GMS","Expert Review Green","Eligibility statement prior genetic testing"],"phenotypes":["Coenzyme Q10 deficiency, primary, 6 #614650"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":106,"hash_id":"55af787822c1fc78a829f89f","name":"Proteinuric renal disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Syndromes with prominent renal abnormalities","status":"public","version":"1.225","version_created":"2019-10-09T10:57:45.692187Z","relevant_disorders":["R195"],"stats":{"number_of_genes":95,"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)"}]}}]}