{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","Expert list"],"phenotypes":["syndromic HCM"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":49,"hash_id":"55a39e2d22c1fc6711b0c6b3","name":"Hypertrophic cardiomyopathy - teen and adult","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiomyopathy","status":"public","version":"1.77","version_created":"2019-10-02T12:51:19.933333Z","relevant_disorders":["Hypertrophic Cardiomyopathy","HCM","R131"],"stats":{"number_of_genes":70,"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":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21457908"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":537,"hash_id":null,"name":"Mitochondrial disorder with complex IV deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T16:19:56.942787Z","relevant_disorders":["R356"],"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":"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":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","21457908"],"evidence":["Expert Review Red","Literature"],"phenotypes":["?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500"],"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":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","21457908"],"evidence":["Expert Review Red","London North GLH","NHS GMS","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500"],"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":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21457908"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500"],"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":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110"],"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":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["0"],"evidence":["Expert Review Red","Expert Review Red"],"phenotypes":["?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500","MITOCHONDRIAL COMPLEX IV DEFICIENCY"],"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":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21457908"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Radboud University Medical Center, Nijmegen","Expert list","Expert"],"phenotypes":["?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500"],"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":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["South West GLH","Expert Review Amber","Expert Review Amber","NHS GMS"],"phenotypes":["Isolated complex IV deficiency","Mitochondrial complex IV deficiency, 220110","Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)","syndromic HCM","?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":749,"hash_id":null,"name":"Cardiomyopathies - including childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-16T12:01:25.928956Z","relevant_disorders":["Paediatric or syndromic cardiomyopathy","R135"],"stats":{"number_of_genes":180,"number_of_strs":0,"number_of_regions":1},"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 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."}]}}]}