{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:3098","gene_name":"torsin family 1 member A","omim_gene":["605204"],"alias_name":["torsin A"],"gene_symbol":"TOR1A","hgnc_symbol":"TOR1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:132575223-132586413","ensembl_id":"ENSG00000136827"}},"GRch38":{"90":{"location":"9:129812944-129824134","ensembl_id":"ENSG00000136827"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"TOR1A","confidence_level":"1","penetrance":"Incomplete","mode_of_pathogenicity":"","publications":["http://www.ncbi.nlm.nih.gov/books/NBK1155/","20301665"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Early-Onset Primary Dystonia","Dystonia-1, torsion, 128100","Autosomal dominant or sporadic dystonia (DYT1)","primary torsion dystonia (DYT1), early-onset isolated dystonia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":39,"hash_id":"58078e6e8f62030e233a8157","name":"Parkinson Disease and Complex Parkinsonism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.66","version_created":"2019-06-20T15:15:15.111993Z","relevant_disorders":["Complex Parkinsonism (includes pallido-pyramidal syndromes)","Early onset and familial Parkinson's Disease"],"stats":{"number_of_genes":57,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["DQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:3098","gene_name":"torsin family 1 member A","omim_gene":["605204"],"alias_name":["torsin A"],"gene_symbol":"TOR1A","hgnc_symbol":"TOR1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:132575223-132586413","ensembl_id":"ENSG00000136827"}},"GRch38":{"90":{"location":"9:129812944-129824134","ensembl_id":"ENSG00000136827"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"TOR1A","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":"","publications":["http://www.ncbi.nlm.nih.gov/books/NBK1155/","9288096","16537570","17503336","11523564","20301665"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","Expert","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Early-Onset Primary Dystonia","Dystonia-1, torsion, 128100","Autosomal dominant or sporadic dystonia (DYT1)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":192,"hash_id":"553f95c9bb5a1616e5ed45bf","name":"Early onset dystonia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.81","version_created":"2019-09-23T11:22:14.418180Z","relevant_disorders":[],"stats":{"number_of_genes":111,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["DQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:3098","gene_name":"torsin family 1 member A","omim_gene":["605204"],"alias_name":["torsin A"],"gene_symbol":"TOR1A","hgnc_symbol":"TOR1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:132575223-132586413","ensembl_id":"ENSG00000136827"}},"GRch38":{"90":{"location":"9:129812944-129824134","ensembl_id":"ENSG00000136827"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"TOR1A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Dystonia-1, torsion 128100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":180,"hash_id":"56ba024322c1fc5025762b4d","name":"Structural basal ganglia disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.17","version_created":"2019-09-04T09:40:29.765078Z","relevant_disorders":[],"stats":{"number_of_genes":76,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["DQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:3098","gene_name":"torsin family 1 member A","omim_gene":["605204"],"alias_name":["torsin A"],"gene_symbol":"TOR1A","hgnc_symbol":"TOR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:132575223-132586413","ensembl_id":"ENSG00000136827"}},"GRch38":{"90":{"location":"9:129812944-129824134","ensembl_id":"ENSG00000136827"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"TOR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16537570","9288096","20301665","20301334","17503336","11523564"],"evidence":["Expert Review Green"],"phenotypes":["Dystonia-1, torsion, 128100","Early-Onset Primary Dystonia","Autosomal dominant or sporadic dystonia (DYT1)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":475,"hash_id":null,"name":"Dystonia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.8","version_created":"2019-09-09T13:17:58.240159Z","relevant_disorders":[],"stats":{"number_of_genes":176,"number_of_strs":7,"number_of_regions":1},"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":["DQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:3098","gene_name":"torsin family 1 member A","omim_gene":["605204"],"alias_name":["torsin A"],"gene_symbol":"TOR1A","hgnc_symbol":"TOR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:132575223-132586413","ensembl_id":"ENSG00000136827"}},"GRch38":{"90":{"location":"9:129812944-129824134","ensembl_id":"ENSG00000136827"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"TOR1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17503336","16537570","11523564","9288096","http://www.ncbi.nlm.nih.gov/books/NBK1155/","20301665"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["primary torsion dystonia (DYT1), early-onset isolated dystonia","Dystonia-1, torsion, 128100","Autosomal dominant or sporadic dystonia (DYT1)","Early-Onset Primary Dystonia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["DQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:3098","gene_name":"torsin family 1 member A","omim_gene":["605204"],"alias_name":["torsin A"],"gene_symbol":"TOR1A","hgnc_symbol":"TOR1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:132575223-132586413","ensembl_id":"ENSG00000136827"}},"GRch38":{"90":{"location":"9:129812944-129824134","ensembl_id":"ENSG00000136827"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"TOR1A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24896178"],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Dystonia-1, torsion, 128100","Dystonia, early-onset atypical, with myoclonic features","{Dystonia-1, modifier of}"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["DQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:3098","gene_name":"torsin family 1 member A","omim_gene":["605204"],"alias_name":["torsin A"],"gene_symbol":"TOR1A","hgnc_symbol":"TOR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:132575223-132586413","ensembl_id":"ENSG00000136827"}},"GRch38":{"90":{"location":"9:129812944-129824134","ensembl_id":"ENSG00000136827"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"TOR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16537570","9288096","20301665","http://www.ncbi.nlm.nih.gov/books/NBK1155/","17503336","11523564"],"evidence":["NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Dystonia-1, torsion, 128100","Early-Onset Primary Dystonia","Autosomal dominant or sporadic dystonia (DYT1)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":540,"hash_id":null,"name":"Adult onset movement disorder","disease_group":"","disease_sub_group":"","status":"public","version":"0.125","version_created":"2019-09-29T14:25:05.513850Z","relevant_disorders":["R56"],"stats":{"number_of_genes":202,"number_of_strs":11,"number_of_regions":1},"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)"}]}}]}