{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["new-gene-name"],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["new-gene-name"],"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","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":["Charcot-Marie-Tooth disease, axonal, type 2N, 613287"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["new-gene-name"],"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["new-gene-name"],"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Yorkshire and North East GLH","NHS GMS","South West GLH","Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["new-gene-name"],"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":["new-gene-name"],"panel":{"id":79,"hash_id":"5541ef3dbb5a160c33b964e0","name":"Paediatric motor neuronopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.23","version_created":"2019-06-20T15:15:14.703422Z","relevant_disorders":[],"stats":{"number_of_genes":39,"number_of_strs":1,"number_of_regions":5},"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25817015"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20045102","26032230, 26392352"],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Charcot-Marie-Tooth, Type 2","Charcot Marie Tooth disease, axonal, type 2N, 613287","Charcot-Marie-Tooth, Type 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["new-gene-name"],"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25817015","28493438"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Victorian Clinical Genetics Services","Expert Review Green","Literature"],"phenotypes":["Epileptic encephalopathy, early infantile, 29 616339"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25817015"],"evidence":["Expert Review Green"],"phenotypes":["EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","London North GLH","NHS GMS","Wessex and West Midlands GLH","Hereditary ataxia v1.148"],"phenotypes":["CMT 2N 613287","EIEE29, 616339"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["new-gene-name"],"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."}]}}]}