{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24808023"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leukoencephalopathy, progressive, with ovarian failure\t615889"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":155,"hash_id":"575ed2398f62034208b69ee1","name":"Primary ovarian insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","status":"public","version":"1.16","version_created":"2019-06-20T15:13:53.581309Z","relevant_disorders":["Early onset familial premature ovarian insufficiency","Early onset familial premature ovarian failure"],"stats":{"number_of_genes":56,"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 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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21549344"],"evidence":["Expert Review Removed","Other","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Literature"],"phenotypes":["early infantile cardiac failure","infantile mitochondrial cardiomyopathy","Combined Oxidative Phosphorylation Deficiency","Combined oxidative phosphorylation deficiency 8, 614096","fatal infantile hypertrophic mitochondrial cardiomyopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":45,"hash_id":"5763f6508f620350a1996055","name":"Sudden death in young people","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiac arrhythmia","status":"public","version":"1.12","version_created":"2019-06-20T15:15:17.414434Z","relevant_disorders":["Unexplained sudden death in the young"],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24808023","27251004","25655951","25705216"],"evidence":["Expert Review Green"],"phenotypes":["Leukoencephalopathy with ovarian failure","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27159321","25527826","28334938","20301621","24357685"],"evidence":["Expert Review Green","NHS GMS","Yorkshire and North East GLH"],"phenotypes":["Leukoencephalopathy, progressive, with ovarian failure, 615889"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":579,"hash_id":null,"name":"White matter disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.21","version_created":"2019-09-13T16:22:23.981754Z","relevant_disorders":["R62"],"stats":{"number_of_genes":77,"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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25655951","24808023","25705216","27251004"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Leukoencephalopathy with ovarian failure","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Required for mitochondrial gene expression  (Mitochondrial respiratory chain disorders (caused by nuclear variants only)","Multiple respiratory chain complex deficiencies (disorders of protein synthesis)","Combined oxidative phosphorylation deficiency 8, 614096","infantile mitochondrial cardiomyopathy"],"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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Required for mitochondrial gene expression  (Mitochondrial respiratory chain disorders (caused by nuclear variants only)","Multiple respiratory chain complex deficiencies (disorders of protein synthesis)","Combined oxidative phosphorylation deficiency 8, 614096","infantile mitochondrial cardiomyopathy"],"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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Combined oxidative phosphorylation deficiency 8, 614096","Leukoencephalopathy, progressive, with ovarian failure, 615889"],"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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 21549344","25058219"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","Expert list","Expert"],"phenotypes":["Multiple respiratory chain complex deficiencies (disorders of protein synthesis)","Combined oxidative phosphorylation deficiency 8, 614096","infantile mitochondrial cardiomyopathy"],"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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25058219","PMID: 21549344"],"evidence":["London South GLH","Expert Review Green"],"phenotypes":["Combined oxidative phosphorylation deficiency 8, 614096","infantile mitochondrial cardiomyopathy","Required for mitochondrial gene expression  (Mitochondrial respiratory chain disorders (caused by nuclear variants only)","Multiple respiratory chain complex deficiencies (disorders of protein synthesis)"],"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."}]}}]}
