{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22328086","23904686","24727570","25678562","22328086","27602171","21532572","23521649","23365052","21532572","25033457"],"evidence":["ClinGen","Expert Review Green","Other"],"phenotypes":["DNMT1 Methylopathy","ORPHA314404","OMIM 604121","autosomal dominant cerebellar ataxia, deafness and narcolepsy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":64,"hash_id":"58ee38f88f62033bda307d54","name":"ClinGen Gene Validity Curations","disease_group":"","disease_sub_group":"","status":"public","version":"0.64","version_created":"2019-06-20T15:10:34.572009Z","relevant_disorders":[],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22328086","24709307","23904686"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Neuropathy, hereditary sensory, type IE, 614116","Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121","CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT","ADCADN"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":213,"hash_id":"55ace3c022c1fc7042059034","name":"Kleine-Levin syndrome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Sleep disorders","status":"public","version":"1.4","version_created":"2019-06-20T15:15:12.561039Z","relevant_disorders":["Kleine-Levin syndrome and other inherited sleep disorders"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21532572","23365052"],"evidence":["Expert Review Red","Emory Genetics Laboratory","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Neuropathy, hereditary sensory, type IE\t614116"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":7,"hash_id":"5763f1d68f620350a22bccdc","name":"Familial dysautonomia","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-07-09T09:43:16.135987Z","relevant_disorders":[],"stats":{"number_of_genes":22,"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":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23365052"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Dementia, Deafness, and Sensory Neuropathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":265,"hash_id":"55b6173522c1fc05fc7a1855","name":"Early onset dementia (encompassing fronto-temporal dementia and prion disease)","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.48","version_created":"2019-06-20T15:15:01.659131Z","relevant_disorders":[],"stats":{"number_of_genes":31,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":20,"hash_id":"559a7d1022c1fc58ad67fc97","name":"Hereditary ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.202","version_created":"2019-06-20T15:15:07.878228Z","relevant_disorders":[],"stats":{"number_of_genes":160,"number_of_strs":14,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23904686","22328086","24709307"],"evidence":["Expert Review Green","NHS GMS","London North GLH","Wessex and West Midlands GLH"],"phenotypes":["Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121","Neuropathy, hereditary sensory, type IE, 614116","CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT","ADCADN"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":541,"hash_id":null,"name":"Paroxysmal central nervous system disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.168","version_created":"2019-10-01T13:39:46.962209Z","relevant_disorders":["Paroxysmal neurological disorders","pain disorders and sleep disorders"],"stats":{"number_of_genes":83,"number_of_strs":5,"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)"}]}},{"gene_data":{"alias":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23365052","8747854","22328086"],"evidence":["Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Dementia, Deafness, and Sensory Neuropathy","Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,"],"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":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21532572"],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Neuropathy, hereditary sensory, type IE, 614116","Neuropathy, hereditary sensory, type IE, 614116","Dementia, Deafness, and Sensory Neuropathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:10325416","10433969","10449766","10545955","10615135","10721735","10753866","10801130","10888872","10888886","11005794","11074872","11290321","11728338","11884600","11932749","11940649","12145218","12473678","12496760","12702876","12915469","14615517","14684836","14749379","14978102","15215866","15311210","1559980","15657147","15684088","15870198","1594447","1606615","16357870","16998846","17312023","17322882","17359920","17470536","17673620","17960246","17994007","18194272","19098913","19246518","19433415","1968655","20081831","2014266","21163962","21532572","22323818","22328086","23365052","24013172","24107992","3210246","7898717","8747854","8917520","8940105","9302295","9333948","9449671"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory"],"phenotypes":["hearing loss","Dementia, Deafness, and Sensory Neuropathy","Neuropathy, hereditary sensory, type IE, 614116","Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"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."},{"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":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant","Neuropathy, hereditary sensory, type IE"],"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":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Hereditary ataxia v1.148"],"phenotypes":["Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,","Cerebellar ataxia, deafness and narcolepsy, 604121","Hereditary sensory neuropathy type IE, 614116"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"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."}]}}]}
