{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25929793"],"evidence":["Expert Review Green","Literature","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)\t612073"],"mode_of_inheritance":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25929793"],"evidence":["Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)"],"mode_of_inheritance":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25655951"],"evidence":["Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy","Mitochondrial DNA depletion syndrome 1 (MNGIE type)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9924029","12177387","14757860","16178026"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041","Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":579,"hash_id":null,"name":"White matter disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.21","version_created":"2019-09-13T16:22:23.981754Z","relevant_disorders":["R62"],"stats":{"number_of_genes":77,"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)"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25655951"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial Leukoencephalopathy","Mitochondrial DNA depletion syndrome 1 (MNGIE type)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","24816252"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Required for mtDNA maintenance  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism)","Disorders of mitochondrial DNA maintenance and integrity","Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041","Mitochondrial Neurogastrointestinal Encephalopathy Disease"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","24816252"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism)","Required for mtDNA maintenance  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Disorders of mitochondrial DNA maintenance and integrity","Mitochondrial Neurogastrointestinal Encephalopathy Disease","Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH","Expert Review Green","Expert list"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type)"],"mode_of_inheritance":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list","Expert"],"phenotypes":["Disorders of mitochondrial DNA maintenance and integrity","Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041","Mitochondrial Neurogastrointestinal Encephalopathy Disease"],"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."}]}}]}