Brain channelopathy
Gene: SCN9AComment 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.
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.
This gene has been classified as Red List (Low Evidence).
Promoted to V1. January 23 2017
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for SCN9A was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
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
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SCN9A was changed to BIALLELIC, autosomal or pseudoautosomal
SCN9A was added to Brain channelopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene SCN9A was changed to BIALLELIC, autosomal or pseudoautosomal
SCN9A was added to Brain channelopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
SCN9A was added to Brain channelopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN