{"count":14,"next":null,"previous":null,"results":[{"gene_data":{"alias":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":267,"hash_id":"5548cc07bb5a16250cc22015","name":"Hyperammonaemia","disease_group":"Metabolic disorders","disease_sub_group":"Urea Cycle disorders","status":"public","version":"1.8","version_created":"2017-11-05T02:37:20.328985Z","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Neural tube defects,folate sensitive,susceptibility to"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":11,"hash_id":"57e3df7e8f62034b82c0d332","name":"Familial Neural Tube Defects","disease_group":"","disease_sub_group":"","status":"public","version":"1.5","version_created":"2017-11-05T02:37:19.836037Z","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28787010"],"evidence":["Literature"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":394,"hash_id":null,"name":"Familial Meniere Disease","disease_group":"Hearing and ear disorders","disease_sub_group":"Other hearing and ear disorders","status":"public","version":"1.1","version_created":"2018-01-17T16:26:29.432517Z","relevant_disorders":[],"stats":{"number_of_genes":130,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9501215","12555939","15714522"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type, 236270"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type, 236270","(originally on the Imerslund-Grasbeck syndrome gene panel)"],"mode_of_inheritance":"","tags":[],"panel":{"id":156,"hash_id":"5693974122c1fc251660fb1f","name":"Unexplained kidney failure in young people","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.73","version_created":"2019-07-17T16:13:42.477129Z","relevant_disorders":["Familial IgA nephropathy and IgA vasculitis","End-stage renal disease - childhood onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12555939","15714522"],"evidence":["Expert Review Green","North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type, 236270","236270 Homocystinuria-megaloblastic anemia, cbl E type"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":518,"hash_id":null,"name":"Rare anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T14:44:13.433190Z","relevant_disorders":["R92"],"stats":{"number_of_genes":94,"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":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type, 236270","(originally on the Imerslund-Grasbeck syndrome gene panel)"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":493,"hash_id":null,"name":"Renal and urinary tract disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.18","version_created":"2019-07-04T13:55:26.963386Z","relevant_disorders":[],"stats":{"number_of_genes":177,"number_of_strs":0,"number_of_regions":3},"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":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type, 236270","(originally on the Imerslund-Grasbeck syndrome gene panel)"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":678,"hash_id":null,"name":"Unexplained paediatric onset end-stage renal disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.43","version_created":"2019-09-25T12:25:36.245604Z","relevant_disorders":["R257"],"stats":{"number_of_genes":229,"number_of_strs":0,"number_of_regions":3},"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":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Emory Genetics Laboratory","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type\t236270","{Neural tube defects, folate-sensitive, susceptibility to}\t601634"],"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":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type"],"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":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE"],"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":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12555939","15714522","9501215"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270"],"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":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634","HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Homocystinuria-megaloblastic anemia, cbl E type, 236270","(originally on the Imerslund-Grasbeck syndrome gene panel)"],"mode_of_inheritance":"","tags":[],"panel":{"id":106,"hash_id":"55af787822c1fc78a829f89f","name":"Proteinuric renal disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Syndromes with prominent renal abnormalities","status":"public","version":"1.225","version_created":"2019-10-09T10:57:45.692187Z","relevant_disorders":["R195"],"stats":{"number_of_genes":95,"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","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)"}]}}]}