{"count":13,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20022530","16049940"],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["episodic dystonia","pyruvate dehydrogenase deficiency","Pyruvate dehydrogenase E2 deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348"],"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19891062","16049940"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pyruvate dehydrogenase E2 deficiency\t245348"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16049940","19891062"],"evidence":["Expert Review Green"],"phenotypes":["Dystonia","Pyruvate dehydrogenase E2 deficiency 245348"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Yorkshire and North East GLH","NHS GMS","South West GLH"],"phenotypes":["Dystonia"],"mode_of_inheritance":"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism)","Pyruvate dehydrogenase E2 deficiency, 245348"],"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism)","Pyruvate dehydrogenase E2 deficiency, 245348"],"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348"],"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["PYRUVATE DEHYDROGENASE E2 DEFICIENCY"],"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16049940"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348"],"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Pyruvate dehydrogenase E2 deficiency, 245348"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist","treatable"],"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Pyruvate dehydrogenase E2 deficiency, 245348"],"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."}]}},{"gene_data":{"alias":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16049940","19891062","20022530"],"evidence":["Expert Review Red","NHS GMS","London North GLH"],"phenotypes":["episodic dystonia","pyruvate dehydrogenase deficiency","Pyruvate dehydrogenase E2 deficiency","Pyruvate dehydrogenase E2 deficiency 245348"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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)"}]}}]}