{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ12439","RESA1"],"biotype":"protein_coding","hgnc_id":"HGNC:25716","gene_name":"cytochrome c oxidase assembly factor 7 (putative)","omim_gene":["615623"],"alias_name":["respiratory chain assembly 1"],"gene_symbol":"COA7","hgnc_symbol":"COA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53152508-53164038","ensembl_id":"ENSG00000162377"}},"GRch38":{"90":{"location":"1:52684451-52698366","ensembl_id":"ENSG00000162377"}}},"hgnc_date_symbol_changed":"2014-01-03"},"entity_type":"gene","entity_name":"COA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29718187","27683825"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387"],"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":["FLJ12439","RESA1"],"biotype":"protein_coding","hgnc_id":"HGNC:25716","gene_name":"cytochrome c oxidase assembly factor 7 (putative)","omim_gene":["615623"],"alias_name":["respiratory chain assembly 1"],"gene_symbol":"COA7","hgnc_symbol":"COA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53152508-53164038","ensembl_id":"ENSG00000162377"}},"GRch38":{"90":{"location":"1:52684451-52698366","ensembl_id":"ENSG00000162377"}}},"hgnc_date_symbol_changed":"2014-01-03"},"entity_type":"gene","entity_name":"COA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27683825","29718187"],"evidence":["Expert Review Green","Expert Review Green","NHS GMS"],"phenotypes":[],"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":["FLJ12439","RESA1"],"biotype":"protein_coding","hgnc_id":"HGNC:25716","gene_name":"cytochrome c oxidase assembly factor 7 (putative)","omim_gene":["615623"],"alias_name":["respiratory chain assembly 1"],"gene_symbol":"COA7","hgnc_symbol":"COA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53152508-53164038","ensembl_id":"ENSG00000162377"}},"GRch38":{"90":{"location":"1:52684451-52698366","ensembl_id":"ENSG00000162377"}}},"hgnc_date_symbol_changed":"2014-01-03"},"entity_type":"gene","entity_name":"COA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29718187","27683825"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387"],"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":["FLJ12439","RESA1"],"biotype":"protein_coding","hgnc_id":"HGNC:25716","gene_name":"cytochrome c oxidase assembly factor 7 (putative)","omim_gene":["615623"],"alias_name":["respiratory chain assembly 1"],"gene_symbol":"COA7","hgnc_symbol":"COA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53152508-53164038","ensembl_id":"ENSG00000162377"}},"GRch38":{"90":{"location":"1:52684451-52698366","ensembl_id":"ENSG00000162377"}}},"hgnc_date_symbol_changed":"2014-01-03"},"entity_type":"gene","entity_name":"COA7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["2971817"],"evidence":["NHS GMS","London North GLH"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387","Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"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."}]}},{"gene_data":{"alias":["FLJ12439","RESA1"],"biotype":"protein_coding","hgnc_id":"HGNC:25716","gene_name":"cytochrome c oxidase assembly factor 7 (putative)","omim_gene":["615623"],"alias_name":["respiratory chain assembly 1"],"gene_symbol":"COA7","hgnc_symbol":"COA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53152508-53164038","ensembl_id":"ENSG00000162377"}},"GRch38":{"90":{"location":"1:52684451-52698366","ensembl_id":"ENSG00000162377"}}},"hgnc_date_symbol_changed":"2014-01-03"},"entity_type":"gene","entity_name":"COA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29718187","27683825"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":[],"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":["FLJ12439","RESA1"],"biotype":"protein_coding","hgnc_id":"HGNC:25716","gene_name":"cytochrome c oxidase assembly factor 7 (putative)","omim_gene":["615623"],"alias_name":["respiratory chain assembly 1"],"gene_symbol":"COA7","hgnc_symbol":"COA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53152508-53164038","ensembl_id":"ENSG00000162377"}},"GRch38":{"90":{"location":"1:52684451-52698366","ensembl_id":"ENSG00000162377"}}},"hgnc_date_symbol_changed":"2014-01-03"},"entity_type":"gene","entity_name":"COA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","London North GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Spinocerebellar ataxia with axonal neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"number_of_regions":4},"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":["FLJ12439","RESA1"],"biotype":"protein_coding","hgnc_id":"HGNC:25716","gene_name":"cytochrome c oxidase assembly factor 7 (putative)","omim_gene":["615623"],"alias_name":["respiratory chain assembly 1"],"gene_symbol":"COA7","hgnc_symbol":"COA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53152508-53164038","ensembl_id":"ENSG00000162377"}},"GRch38":{"90":{"location":"1:52684451-52698366","ensembl_id":"ENSG00000162377"}}},"hgnc_date_symbol_changed":"2014-01-03"},"entity_type":"gene","entity_name":"COA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27683825","29718187"],"evidence":["MetBioNet","Expert Review Green","Expert Review Green","NHS GMS"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387"],"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."}]}}]}
