{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PubMed: 22448145"],"evidence":["Expert Review Green"],"phenotypes":["Spastic ataxia 3, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PubMed: 22448145"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Spastic ataxia 3, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["gene-duplication","cnv"],"panel":{"id":20,"hash_id":"559a7d1022c1fc58ad67fc97","name":"Hereditary ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.202","version_created":"2019-06-20T15:15:07.878228Z","relevant_disorders":[],"stats":{"number_of_genes":160,"number_of_strs":14,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Radboud University Medical Center, Nijmegen"],"phenotypes":["Spastic ataxia 3, autosomal recessive"],"mode_of_inheritance":"","tags":["cnv","gene-duplication"],"panel":{"id":165,"hash_id":"55ad019f22c1fc7042059038","name":"Hereditary spastic paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.205","version_created":"2019-06-20T15:15:08.031188Z","relevant_disorders":[],"stats":{"number_of_genes":109,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22448145"],"evidence":["Yorkshire and North East GLH","Expert Review Amber","NHS GMS","London North GLH","Radboud University Medical Center, Nijmegen"],"phenotypes":["Spastic ataxia 3, autosomal recessive, 611390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":568,"hash_id":null,"name":"Hereditary spastic paraplegia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.179","version_created":"2019-09-30T12:40:08.803161Z","relevant_disorders":["Childhood onset hereditary spastic paraplegia;R61"],"stats":{"number_of_genes":98,"number_of_strs":10,"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":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["Bayat (2012),  22448145"],"evidence":["Expert Review Amber","Yorkshire and North East GLH","South West GLH","NHS GMS","London North GLH"],"phenotypes":["Spastic ataxia 3, autosomal recessive, 611390","Spastic ataxia 3, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":567,"hash_id":null,"name":"Hereditary spastic paraplegia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.156","version_created":"2019-09-30T12:38:14.427158Z","relevant_disorders":["R60"],"stats":{"number_of_genes":97,"number_of_strs":10,"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":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22448145","16672289"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["Spastic ataxia 3, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cnv","gene-duplication"],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"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":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","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)","Spastic Ataxia 13, autosomal recessive, 611390","?Combined oxidative phosphorylation deficiency 25"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["missense"],"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":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Spastic Ataxia 13, autosomal recessive, 611390","Multiple respiratory chain complex deficiencies (disorders of protein synthesis)","Required for mitochondrial gene expression  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","?Combined oxidative phosphorylation deficiency 25"],"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":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Spastic ataxia 3, autosomal recessive, 611390","?Combined oxidative phosphorylation deficiency 25, 616430"],"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":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25754315"],"evidence":["Expert Review Red","Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay)"],"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":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 22448145","25754315"],"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)","Spastic Ataxia 13, autosomal recessive, 611390","?Combined oxidative phosphorylation deficiency 25"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["missense"],"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":["mtMetRS","SPAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:25133","gene_name":"methionyl-tRNA synthetase 2, mitochondrial","omim_gene":["609728"],"alias_name":["methionine tRNA ligase 2, mitochondrial"],"gene_symbol":"MARS2","hgnc_symbol":"MARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198570087-198573113","ensembl_id":"ENSG00000247626"}},"GRch38":{"90":{"location":"2:197705369-197708387","ensembl_id":"ENSG00000247626"}}},"hgnc_date_symbol_changed":"2004-12-02"},"entity_type":"gene","entity_name":"MARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22448145"],"evidence":["London North GLH","NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Hereditary ataxia v1.148"],"phenotypes":["Spastic ataxia 3, autosomal recessive","Autosomal recessive spastic ataxia 3, 611390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cnv","gene-duplication"],"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."}]}}]}