{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29654549, 29501406, 24334290, 21944046"],"evidence":["Expert Review Red"],"phenotypes":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":531,"hash_id":null,"name":"Pyruvate dehydrogenase (PDH) deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T15:34:29.561266Z","relevant_disorders":["R316"],"stats":{"number_of_genes":26,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29654549, 29501406, 24334290, 21944046"],"evidence":["Expert Review Red","Literature"],"phenotypes":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Defective Fe-S/lipoic acid biosynthesis  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Disorders of iron homeostasis","Multiple mitochondrial dysfunctions syndrome 2, 614299","Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)","Multiple Mitochondrial Dysfunctions Syndrome"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)","Defective Fe-S/lipoic acid biosynthesis  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Multiple mitochondrial dysfunctions syndrome 2, 614299","Multiple Mitochondrial Dysfunctions Syndrome","Disorders of iron homeostasis"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["11156534"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24334290","11156534"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11156534"],"evidence":["Expert Review Green"],"phenotypes":["MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list","Expert"],"phenotypes":["Disorders of iron homeostasis","Multiple mitochondrial dysfunctions syndrome 2, 614299","Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)","Multiple Mitochondrial Dysfunctions Syndrome"],"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."}]}}]}