{"count":26,"next":null,"previous":null,"results":[{"gene_data":{"alias":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type)\t203700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":267,"hash_id":"5548cc07bb5a16250cc22015","name":"Hyperammonaemia","disease_group":"Metabolic disorders","disease_sub_group":"Urea Cycle disorders","status":"public","version":"1.8","version_created":"2017-11-05T02:37:20.328985Z","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20142534"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Emory Genetics Laboratory"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":385,"hash_id":null,"name":"Neonatal cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"Liver disease","status":"public","version":"1.4","version_created":"2019-06-20T15:13:26.764332Z","relevant_disorders":[],"stats":{"number_of_genes":90,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20301791"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Progressive external ophthalmoplegia, autosomal dominant 1\t157640","Progressive external ophthalmoplegia, autosomal recessive 1\t258450"],"mode_of_inheritance":"BOTH monoallelic and 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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":61,"hash_id":"578e26918f62031b478bdb68","name":"Gastrointestinal neuromuscular disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.10","version_created":"2018-12-16T17:39:16.981966Z","relevant_disorders":["Neonatal and familial gastrointestinal neuromuscular disorders","Infantile pseudo-obstruction","Early onset or familial intestinal pseudo obstruction"],"stats":{"number_of_genes":26,"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25929793"],"evidence":["UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Literature"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type)\t203700","Mitochondrial DNA depletion syndrome 4B (MNGIE type)\t613662","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)\t607459","Progressive external ophthalmoplegia, autosomal dominant 1\t157640","Progressive external ophthalmoplegia, autosomal recessive 1 258450"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":"55b63d7f22c1fc05fc7a185b","name":"Rhabdomyolysis and metabolic muscle disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.28","version_created":"2019-08-08T11:47:51.945935Z","relevant_disorders":[],"stats":{"number_of_genes":55,"number_of_strs":0,"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["157640","Progressive external ophthalmoplegia, autosomal recessive 1 258450"],"evidence":["Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)","Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700","Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662"],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)"],"mode_of_inheritance":"BOTH monoallelic and 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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459","Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662","Progressive external ophthalmoplegia, autosomal dominant 1, 157640","Progressive external ophthalmoplegia, autosomal recessive 1, 258450"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":532,"hash_id":null,"name":"Mitochondrial liver disease","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T15:40:17.464078Z","relevant_disorders":["R317"],"stats":{"number_of_genes":11,"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25655951"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type)\t203700","Mitochondrial DNA depletion syndrome 4B (MNGIE type)\t613662","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)\t607459"],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459","Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662","Progressive external ophthalmoplegia, autosomal dominant 1, 157640","Progressive external ophthalmoplegia, autosomal recessive 1, 258450"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":533,"hash_id":null,"name":"Mitochondrial DNA maintenance disorder","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T15:48:25.333570Z","relevant_disorders":["R352"],"stats":{"number_of_genes":27,"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","London North GLH"],"phenotypes":["PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":186,"hash_id":"553f95e2bb5a1616e5ed45c8","name":"Optic neuropathy","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:24:42.288499Z","relevant_disorders":["Inherited optic neuropathies","R41","R42.2"],"stats":{"number_of_genes":48,"number_of_strs":0,"number_of_regions":0},"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":"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"number_of_strs":0,"number_of_regions":0},"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["15122711"],"evidence":["Expert Review Amber","NHS GMS","Yorkshire and North East GLH","Expert Review"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":185,"hash_id":"55b7a65322c1fc05fc7a1869","name":"Limb girdle muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.89","version_created":"2019-06-20T15:15:12.994579Z","relevant_disorders":[],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"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)"}]}},{"gene_data":{"alias":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Required for mtDNA maintenance  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Mitochondrial DNA depletion syndrome 4A (Alpers type)","Progressive external ophthalmoplegia, autosomal recessive, 258450","Progressive external ophthalmoplegia, autosomal dominant, 157640","Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662","Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459","Mitochondrial DNA Depletion Syndrome","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions"],"mode_of_inheritance":"BOTH monoallelic and 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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Progressive external ophthalmoplegia, autosomal dominant, 157640","Progressive external ophthalmoplegia, autosomal recessive, 258450","Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions","Required for mtDNA maintenance  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662","Mitochondrial DNA depletion syndrome 4A (Alpers type)","Mitochondrial DNA Depletion Syndrome","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459"],"mode_of_inheritance":"BOTH monoallelic and 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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459","Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662","Progressive external ophthalmoplegia, autosomal dominant 1, 157640","Progressive external ophthalmoplegia, autosomal recessive 1, 258450"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["MITOCHONDRIAL DNA DEPLETION SYNDROME 4A"],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700"],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH","Expert Review Green","Emory Genetics Laboratory","Expert list"],"phenotypes":["Cardiomyopathy","sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)","Mitochondrial DNA depletion syndrome 4A (Alpers type)","Mitochondrial DNA depletion syndrome 4B (MNGIE type)","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)","Progressive external ophthalmoplegia, autosomal dominant 1","Progressive external ophthalmoplegia, autosomal recessive 1"],"mode_of_inheritance":"BOTH monoallelic and 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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["Naviaux & Nguyen (2004) Ann Neurol 55: 706-712","Goethem et al (2003) Eur J Hum Genet 11: 547-549","Goethen et al (2004) Neurology 63: 1251-1257"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Victorian Clinical Genetics Services","UKGTN","Expert","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type)","Mitochondrial DNA depletion syndrome 4B (MNGIE type)","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)"],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["0"],"evidence":["Expert Review Green"],"phenotypes":["MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)"],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Eligibility statement exclusion criteria","UKGTN","Radboud University Medical Center, Nijmegen","Expert"],"phenotypes":["Progressive external ophthalmoplegia, autosomal recessive, 258450","Progressive external ophthalmoplegia, autosomal dominant, 157640","Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662","Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459","Mitochondrial DNA Depletion Syndrome","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions"],"mode_of_inheritance":"BOTH monoallelic and 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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Hereditary ataxia v1.148"],"phenotypes":["Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)","Mitochondrial recessive ataxia syndrome, 607459","autosomal recessive progressive external opthalmoplegia, 258450","autosomal dominant progressive external ophthalmoplegia, 157640","Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662"],"mode_of_inheritance":"BOTH monoallelic and 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."}]}}]}
