Genes in panel

Hereditary ataxia - 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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Can see no evidence of ataxia or cerebellar abnormalities reported in conjunction with pathogenic variants in this gene. Loose reports of modifying Dravet syndrome may have resulted in its inclusion?
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Multiple

Details

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

History Filter Activity

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SCN9A.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SCN9A.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SCN9A was added gene: SCN9A was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,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 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