{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","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":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["doi:10. 1007/ s12265-016-9673-5","16818210"],"evidence":["Expert Review Green"],"phenotypes":["Catecholaminergic polymorphic ventricular tachycardia","Long QT syndrome-5","Long QT syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":468,"hash_id":null,"name":"Cardiac arrhythmias","disease_group":"","disease_sub_group":"","status":"public","version":"1.2","version_created":"2019-06-20T15:14:56.920397Z","relevant_disorders":["Cardiac arrythmias"],"stats":{"number_of_genes":43,"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":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16301704","26168993"],"evidence":["North West GLH","Emory Genetics Laboratory","Long QT syndrome (Version 1.5)"],"phenotypes":["Long QT syndrome-5 (613695)","Jervell and Lange-Nielsen syndrome 2 (612347)"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":224,"hash_id":"58c7f6858f620328d77ce711","name":"Short QT syndrome","disease_group":"","disease_sub_group":"","status":"public","version":"1.23","version_created":"2019-09-30T12:24:45.336900Z","relevant_disorders":["R130"],"stats":{"number_of_genes":40,"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)"}]}},{"gene_data":{"alias":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19716085"],"evidence":["South West GLH","London South GLH","North West GLH","Expert Review Green","Emory Genetics Laboratory","Expert list","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Long QT syndrome 5 (613695)","Jervell and Lange-Nielsen syndrome 2 (612347)"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":76,"hash_id":"55a3b19722c1fc6710839b80","name":"Long QT syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiac arrhythmia","status":"public","version":"1.42","version_created":"2019-09-30T13:03:18.281516Z","relevant_disorders":["Long QT","R127"],"stats":{"number_of_genes":20,"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)"}]}},{"gene_data":{"alias":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16818210","doi:10.​1007/​s12265-016-9673-5"],"evidence":["South West GLH","Literature"],"phenotypes":["Catecholaminergic polymorphic ventricular tachycardia","Long QT syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":214,"hash_id":"55a3aac122c1fc6710839b7d","name":"Catecholaminergic polymorphic VT","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiac arrhythmia","status":"public","version":"1.25","version_created":"2019-10-02T11:14:32.240274Z","relevant_disorders":["Catecholaminergic Polymorphic Ventricular Tachycardia","R129"],"stats":{"number_of_genes":10,"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)"}]}},{"gene_data":{"alias":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2"],"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":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347","LONG QT SYNDROME-5 613695"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["watchlist"],"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":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:10400998","10973849","11438691","11799244","12670425","14760488","15051636","15207237","15840476","16823764","16922724","2730656","7622063","7828904","8432548","8899564","8900282","8900283","9230439","9354783","9354802","9445165","9693036","9790991"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Jervell and Lange-Nielsen syndrome 2, 612347","JLNS","Long QT syndrome-5, 613695"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["NA"],"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":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26168993","19716085","16301704"],"evidence":["London South GLH","North West GLH","Expert Review Green","London South GLH","North West GLH","Expert Review Green"],"phenotypes":["Jervell and Lange-Nielsen syndrome 2 (612347)","Catecholaminergic polymorphic ventricular tachycardia","Long QT syndrome","Long QT syndrome-5 (613695)","Long QT syndrome-5"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":750,"hash_id":null,"name":"Sudden cardiac death","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-09-24T10:05:54.784946Z","relevant_disorders":["Molecular autopsy","R138"],"stats":{"number_of_genes":119,"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 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."}]}}]}
