{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ZGRF7"],"biotype":"protein_coding","hgnc_id":"HGNC:11992","gene_name":"DNA topoisomerase III alpha","omim_gene":["601243"],"alias_name":["zinc finger, GRF-type containing 7"],"gene_symbol":"TOP3A","hgnc_symbol":"TOP3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18174742-18218321","ensembl_id":"ENSG00000177302"}},"GRch38":{"90":{"location":"17:18271428-18315007","ensembl_id":"ENSG00000177302"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"TOP3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29290614"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098"],"mode_of_inheritance":"BIALLELIC, 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":["ZGRF7"],"biotype":"protein_coding","hgnc_id":"HGNC:11992","gene_name":"DNA topoisomerase III alpha","omim_gene":["601243"],"alias_name":["zinc finger, GRF-type containing 7"],"gene_symbol":"TOP3A","hgnc_symbol":"TOP3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18174742-18218321","ensembl_id":"ENSG00000177302"}},"GRch38":{"90":{"location":"17:18271428-18315007","ensembl_id":"ENSG00000177302"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"TOP3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30057030"],"evidence":["NHS GMS","Expert Review Green","Literature"],"phenotypes":["Bloom Syndrome-like Disorder"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":"568f860222c1fc1c79ca1769","name":"Severe microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"DNA repair disorders","status":"public","version":"1.72","version_created":"2019-08-19T16:58:29.143286Z","relevant_disorders":["Primary Microcephaly - Microcephalic Dwarfism Spectrum","Severe microcephaly"],"stats":{"number_of_genes":122,"number_of_strs":0,"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":["ZGRF7"],"biotype":"protein_coding","hgnc_id":"HGNC:11992","gene_name":"DNA topoisomerase III alpha","omim_gene":["601243"],"alias_name":["zinc finger, GRF-type containing 7"],"gene_symbol":"TOP3A","hgnc_symbol":"TOP3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18174742-18218321","ensembl_id":"ENSG00000177302"}},"GRch38":{"90":{"location":"17:18271428-18315007","ensembl_id":"ENSG00000177302"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"TOP3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["North West GLH","Yorkshire and North East GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["Microcephaly, growth restriction, and increased sister chromatid exchange 2","618097 MGRISCE2 (Bloom-like syndrome)","MGRISCE2 (Bloom-like syndrome) 618097"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":508,"hash_id":null,"name":"Confirmed Fanconi anaemia or Bloom syndrome","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T14:19:05.632800Z","relevant_disorders":["R229"],"stats":{"number_of_genes":22,"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":["ZGRF7"],"biotype":"protein_coding","hgnc_id":"HGNC:11992","gene_name":"DNA topoisomerase III alpha","omim_gene":["601243"],"alias_name":["zinc finger, GRF-type containing 7"],"gene_symbol":"TOP3A","hgnc_symbol":"TOP3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18174742-18218321","ensembl_id":"ENSG00000177302"}},"GRch38":{"90":{"location":"17:18271428-18315007","ensembl_id":"ENSG00000177302"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"TOP3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29290614"],"evidence":["Expert Review Green","Expert Review Green","NHS GMS","Expert list"],"phenotypes":["?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098"],"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":["ZGRF7"],"biotype":"protein_coding","hgnc_id":"HGNC:11992","gene_name":"DNA topoisomerase III alpha","omim_gene":["601243"],"alias_name":["zinc finger, GRF-type containing 7"],"gene_symbol":"TOP3A","hgnc_symbol":"TOP3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18174742-18218321","ensembl_id":"ENSG00000177302"}},"GRch38":{"90":{"location":"17:18271428-18315007","ensembl_id":"ENSG00000177302"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"TOP3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29290614"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098"],"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":["ZGRF7"],"biotype":"protein_coding","hgnc_id":"HGNC:11992","gene_name":"DNA topoisomerase III alpha","omim_gene":["601243"],"alias_name":["zinc finger, GRF-type containing 7"],"gene_symbol":"TOP3A","hgnc_symbol":"TOP3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18174742-18218321","ensembl_id":"ENSG00000177302"}},"GRch38":{"90":{"location":"17:18271428-18315007","ensembl_id":"ENSG00000177302"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"TOP3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30193137"],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["Bloom Syndrome like Disorder"],"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":["ZGRF7"],"biotype":"protein_coding","hgnc_id":"HGNC:11992","gene_name":"DNA topoisomerase III alpha","omim_gene":["601243"],"alias_name":["zinc finger, GRF-type containing 7"],"gene_symbol":"TOP3A","hgnc_symbol":"TOP3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18174742-18218321","ensembl_id":"ENSG00000177302"}},"GRch38":{"90":{"location":"17:18271428-18315007","ensembl_id":"ENSG00000177302"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"TOP3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30193137"],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["Bloom Syndrome like Disorder"],"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":["ZGRF7"],"biotype":"protein_coding","hgnc_id":"HGNC:11992","gene_name":"DNA topoisomerase III alpha","omim_gene":["601243"],"alias_name":["zinc finger, GRF-type containing 7"],"gene_symbol":"TOP3A","hgnc_symbol":"TOP3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18174742-18218321","ensembl_id":"ENSG00000177302"}},"GRch38":{"90":{"location":"17:18271428-18315007","ensembl_id":"ENSG00000177302"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"TOP3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["MGRISCE2 (Bloom-like syndrome) 618097","Microcephaly, growth restriction, and increased sister chromatid exchange 2","618097 MGRISCE2 (Bloom-like syndrome)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"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":"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":["ZGRF7"],"biotype":"protein_coding","hgnc_id":"HGNC:11992","gene_name":"DNA topoisomerase III alpha","omim_gene":["601243"],"alias_name":["zinc finger, GRF-type containing 7"],"gene_symbol":"TOP3A","hgnc_symbol":"TOP3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18174742-18218321","ensembl_id":"ENSG00000177302"}},"GRch38":{"90":{"location":"17:18271428-18315007","ensembl_id":"ENSG00000177302"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"TOP3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29290614"],"evidence":["Expert Review Green","NHS GMS","Expert list"],"phenotypes":["?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098"],"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."}]}}]}
