Brain channelopathy
Gene: SCN9AEnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
2 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked ad red a mutations in this gene cause a different phenotype (PAIN syndrome)Created: 22 Feb 2017, 2:20 p.m.
Comment when marking as ready: Marked as red as mutations in this gene cause pain syndromes, or epilepsy (febrile seizures).Created: 19 Jan 2017, 10:33 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene is on the Hereditary Sensory Neuropathy (HSN) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual (and not the Brain Channel NGS Panel) therefore I am unsure whether this gene should be included on this gene panel.
Created: 10 Jun 2016, 3:28 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- 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
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- Complete
- Panels with this gene
-
- Pain syndromes
- Early onset or syndromic epilepsy
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Familial dysautonomia
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Vascular skin disorders
- Hereditary neuropathy or pain disorder
History Filter Activity
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for SCN9A was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SCN9A were set to 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCN9A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SCN9A was added to Brain channelopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SCN9A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SCN9A was added to Brain channelopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)SCN9A was added to Brain channelopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN