{"count":13,"next":null,"previous":null,"results":[{"gene_data":{"alias":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":"","publications":["26677014"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["epilepsy","paroxysmal kinesigenic dyskinesias"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":90,"hash_id":"55c2321822c1fc0fe5e416e1","name":"Brain channelopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Channelopathies","status":"public","version":"1.55","version_created":"2019-09-09T12:58:28.671278Z","relevant_disorders":[],"stats":{"number_of_genes":24,"number_of_strs":5,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Cognitive impairment with or without cerebellar ataxia, 614306"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Cognitive impairment with or without cerebellar ataxia, 614306"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26677014"],"evidence":["Expert Review Green"],"phenotypes":["epilepsy","paroxysmal kinesigenic dyskinesias"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26677014"],"evidence":["Expert Review Amber","NHS GMS","London North GLH","Wessex and West Midlands GLH"],"phenotypes":["Epileptic encephalopathy, early infantile, 13, 614558","Seizures, benign familial infantile, 5, 617080","paroxysmal kinesigenic dyskinesias"],"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":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26677014"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["epilepsy","Cognitive impairment with or without cerebellar ataxia, 614306","paroxysmal kinesigenic dyskinesias"],"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":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22365152"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["Trudeau et al (2004) J Med Genet 43: 527_530","O'Brien and Meisler (2013) Frontiers in Genet 4(213): 1-9","Veeramah et al (2012) Am J Hum Genet 90: 502_510"],"evidence":["Wessex and West Midlands GLH","NHS GMS","NIHRBR-RD Consortium SPEED_v3.0_20170404","Victorian Clinical Genetics Services","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","UKGTN","Expert Review Green"],"phenotypes":["Cognitive impairment with or without cerebellar ataxia","Intellectual disability","Epileptic encephalopathy, early infantile, 13"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cognitive impairment with or without cerebellar ataxia, 614306Epileptic encephalopathy, early infantile, 13, 614558","COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26677014"],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Brain channelopathy v1.46","Hereditary ataxia v1.148"],"phenotypes":["epilepsy","paroxysmal kinesigenic dyskinesias","Epileptic encephalopathy 13, 614558","Benign familial infantile seizures 5, 617080","Cognitive impairment with or without cerebellar ataxia, 614306"],"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."}]}},{"gene_data":{"alias":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26677014"],"evidence":["Expert Review Red","NHS GMS","London North GLH"],"phenotypes":["epilepsy","paroxysmal kinesigenic dyskinesias"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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)"}]}}]}
