Genes in panel

Neurodegenerative disorders - adult onset

Gene: SCN9A

Red List (low evidence)

SCN9A (sodium voltage-gated channel alpha subunit 9)
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 15 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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
OMIM
603415
Clinvar variants
Variants in SCN9A
Penetrance
None
Panels with this gene

History Filter Activity

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SCN9A was added gene: SCN9A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to 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