{"count":13,"next":null,"previous":null,"results":[{"gene_data":{"alias":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23596073"],"evidence":["Expert Review Green","Emory Genetics Laboratory","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["HSAN2D, autosomal recessive,  243000","Insensitivity to pain, congenital,  243000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Erythermalgia, primary, 133020","Insensitivity to pain, channelopathy-associated, 243000","Paroxysmal extreme pain disorder, 167400","Febrile seizures, familial, 3B, 613863","Epilepsy, generalized, with febrile seizures plus, type 7, 613863","Congenital Indifference to Pain","Dysosteosclerosis","Erythermalgia, Primary","Paroxysmal Extreme Pain Disorder","Hereditary Sensory Neuropathy"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["20212079","26185613","23042784","24267887","26166478","25989142","24090431","24581740","26167905","23999528","25294932"],"evidence":["Expert Review Amber","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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Paroxysmal extreme pain disorder, 167400","Congenital Indifference to Pain","Paroxysmal Extreme Pain Disorder","Hereditary Sensory Neuropathy","Febrile seizures, familial, 3B, 613863","Dysosteosclerosis","Epilepsy, generalized, with febrile seizures plus, type 7, 613863","Insensitivity to pain, channelopathy-associated, 243000","Erythermalgia, primary, 133020","Erythermalgia, Primary"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17167479","14985375","28665811","28235406","24813307","25316021","16392115","16216943","1536168","15958509","16392115","17167479","17470132","23596073","17145499","24817410","17679678","28665811"],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Erythermalgia, primary, AD, 133020","Small fiber neuropathy, AD,133020","HSAN2D, autosomal recessive, AR, 243000","Insensitivity to pain, congenital, AR, 243000","Paroxysmal extreme pain disorder, AD, 167400"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":288,"hash_id":"59621a1c8f62036f45d561a3","name":"Pain syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Channelopathies","status":"public","version":"1.8","version_created":"2019-10-08T10:46:35.875259Z","relevant_disorders":["neuropathic pain","Pain channelopathies"],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17145499","16392115","17679678","17470132","24813307","28665811","25316021","16216943","1536168","24817410","15958509","28235406","23596073","17167479","14985375"],"evidence":["Expert Review Red","NHS GMS","London North GLH","Wessex and West Midlands GLH"],"phenotypes":["Paroxysmal extreme pain disorder, 167400","Paroxysmal Extreme Pain Disorder","Congenital Indifference to Pain","Erythermalgia, primary, AD, 133020","Paroxysmal extreme pain disorder, AD, 167400","Small fiber neuropathy, AD,133020","Febrile seizures, familial, 3B, 613863","Dysosteosclerosis","Insensitivity to pain, congenital, AR, 243000","Epilepsy, generalized, with febrile seizures plus, type 7, 613863","Erythermalgia, Primary","HSAN2D, autosomal recessive, AR, 243000","Insensitivity to pain, channelopathy-associated, 243000","Erythermalgia, primary, 133020","Hereditary Sensory Neuropathy"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Erythromyalgia"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":563,"hash_id":null,"name":"Vascular skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-09T15:38:44.120161Z","relevant_disorders":[],"stats":{"number_of_genes":34,"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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Erythermalgia, primary, 133020","Epilepsy, generalized, with febrile seizures plus, type 7, 613863","Congenital Indifference to Pain","Paroxysmal Extreme Pain Disorder","Dysosteosclerosis","Insensitivity to pain, channelopathy-associated, 243000","Hereditary Sensory Neuropathy","Paroxysmal extreme pain disorder, 167400","Febrile seizures, familial, 3B, 613863","Erythermalgia, Primary"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26392352"],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Emory Genetics Laboratory","UKGTN","Expert list"],"phenotypes":["Hereditary Neuropathies"],"mode_of_inheritance":"BOTH monoallelic and 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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19763161","29500686"],"evidence":["North West GLH","Expert Review Green","Wessex and West Midlands GLH","NHS GMS","NIHRBR-RD Consortium SPEED_v3.0_20170404","Expert"],"phenotypes":["Epilepsy, generalized, with febrile seizures plus, type 7 613863","Febrile seizures, familial, 3B 613863","{Dravet syndrome, modifier of} 607208"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments ","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Erythermalgia, primary, 133020","Paroxysmal extreme pain disorder, 167400, Insensitivity to pain, congenital, 243000","Febrile seizures, familial, 3B, 613863","Epilepsy, generalized, with febrile seizures plus, type 7, 613863","Small fiber neuropathy, 133020","{Dravet syndrome, modifier of}, 607208","HSAN2D, autosomal recessive, 243000"],"mode_of_inheritance":"BOTH monoallelic and 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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Red","Brain channelopathy v1.46"],"phenotypes":["Paroxysmal extreme pain disorder, 167400","Congenital Indifference to Pain","Paroxysmal Extreme Pain Disorder","Hereditary Sensory Neuropathy","Febrile seizures, familial, 3B, 613863","Dysosteosclerosis","Epilepsy, generalized, with febrile seizures plus, type 7, 613863","Insensitivity to pain, channelopathy-associated, 243000","Erythermalgia, primary, 133020","Erythermalgia, Primary"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","South West GLH","Expert Review Red"],"phenotypes":["Paroxysmal extreme pain disorder, 167400","Erythermalgia, primary, 133020","Erythermalgia, Primary","Paroxysmal Extreme Pain Disorder","Congenital Indifference to Pain","Epilepsy, generalized, with febrile seizures plus, type 7, 613863","Insensitivity to pain, channelopathy-associated, 243000","Dysosteosclerosis","Hereditary Sensory Neuropathy","Febrile seizures, familial, 3B, 613863"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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)"}]}}]}