{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ10477","4833431A01Rik"],"biotype":"protein_coding","hgnc_id":"HGNC:20856","gene_name":"THAP domain containing 1","omim_gene":["609520"],"alias_name":null,"gene_symbol":"THAP1","hgnc_symbol":"THAP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42691817-42698468","ensembl_id":"ENSG00000131931"}},"GRch38":{"90":{"location":"8:42836674-42843325","ensembl_id":"ENSG00000131931"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"THAP1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["http://www.ncbi.nlm.nih.gov/books/NBK1155/","21793105"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Dystonia","Dystonia 6, torsion, 602629","DYT6"],"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":["FLJ10477","4833431A01Rik"],"biotype":"protein_coding","hgnc_id":"HGNC:20856","gene_name":"THAP domain containing 1","omim_gene":["609520"],"alias_name":null,"gene_symbol":"THAP1","hgnc_symbol":"THAP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42691817-42698468","ensembl_id":"ENSG00000131931"}},"GRch38":{"90":{"location":"8:42836674-42843325","ensembl_id":"ENSG00000131931"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"THAP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["http://www.ncbi.nlm.nih.gov/books/NBK1155/"],"evidence":["Expert Review Green","Expert","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Dystonia","Dystonia 6, torsion, 602629"],"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":["FLJ10477","4833431A01Rik"],"biotype":"protein_coding","hgnc_id":"HGNC:20856","gene_name":"THAP domain containing 1","omim_gene":["609520"],"alias_name":null,"gene_symbol":"THAP1","hgnc_symbol":"THAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42691817-42698468","ensembl_id":"ENSG00000131931"}},"GRch38":{"90":{"location":"8:42836674-42843325","ensembl_id":"ENSG00000131931"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"THAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301334"],"evidence":["Expert Review Green"],"phenotypes":["Dystonia 6, torsion, 602629","Dystonia"],"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":["FLJ10477","4833431A01Rik"],"biotype":"protein_coding","hgnc_id":"HGNC:20856","gene_name":"THAP domain containing 1","omim_gene":["609520"],"alias_name":null,"gene_symbol":"THAP1","hgnc_symbol":"THAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42691817-42698468","ensembl_id":"ENSG00000131931"}},"GRch38":{"90":{"location":"8:42836674-42843325","ensembl_id":"ENSG00000131931"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"THAP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21793105","http://www.ncbi.nlm.nih.gov/books/NBK1155/"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["Dystonia","Dystonia 6, torsion, 602629","DYT6"],"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":["FLJ10477","4833431A01Rik"],"biotype":"protein_coding","hgnc_id":"HGNC:20856","gene_name":"THAP domain containing 1","omim_gene":["609520"],"alias_name":null,"gene_symbol":"THAP1","hgnc_symbol":"THAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42691817-42698468","ensembl_id":"ENSG00000131931"}},"GRch38":{"90":{"location":"8:42836674-42843325","ensembl_id":"ENSG00000131931"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"THAP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["DYSTONIA 6, TORSION"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["FLJ10477","4833431A01Rik"],"biotype":"protein_coding","hgnc_id":"HGNC:20856","gene_name":"THAP domain containing 1","omim_gene":["609520"],"alias_name":null,"gene_symbol":"THAP1","hgnc_symbol":"THAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42691817-42698468","ensembl_id":"ENSG00000131931"}},"GRch38":{"90":{"location":"8:42836674-42843325","ensembl_id":"ENSG00000131931"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"THAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["DYSTONIA 6, TORSION 602629"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["FLJ10477","4833431A01Rik"],"biotype":"protein_coding","hgnc_id":"HGNC:20856","gene_name":"THAP domain containing 1","omim_gene":["609520"],"alias_name":null,"gene_symbol":"THAP1","hgnc_symbol":"THAP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42691817-42698468","ensembl_id":"ENSG00000131931"}},"GRch38":{"90":{"location":"8:42836674-42843325","ensembl_id":"ENSG00000131931"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"THAP1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["0"],"evidence":["Expert Review Red"],"phenotypes":["DYSTONIA 6, TORSION"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["FLJ10477","4833431A01Rik"],"biotype":"protein_coding","hgnc_id":"HGNC:20856","gene_name":"THAP domain containing 1","omim_gene":["609520"],"alias_name":null,"gene_symbol":"THAP1","hgnc_symbol":"THAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42691817-42698468","ensembl_id":"ENSG00000131931"}},"GRch38":{"90":{"location":"8:42836674-42843325","ensembl_id":"ENSG00000131931"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"THAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["http://www.ncbi.nlm.nih.gov/books/NBK1155/","21793105"],"evidence":["NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Dystonia 6, torsion, 602629","Dystonia"],"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)"}]}}]}