Paroxysmal central nervous system disorders

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

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted SCN9A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 9 Sep 2019, 3:26 p.m. | Last Modified: 9 Sep 2019, 3:26 p.m.
Panel Version: 0.72
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Paroxysmal extreme pain disorder, 167400; Erythermalgia, primary, AD, 133020; Small fiber neuropathy,133020; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, congenital, 243000; HSAN2D, autosomal recessive, AR, 243000

Details

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

History Filter Activity

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: scn9a has been classified as Red List (Low Evidence).

9 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: scn9a has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SCN9A.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SCN9A.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SCN9A.

3 Jan 2019, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary for gene: SCN9A

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SCN9A was added gene: SCN9A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN9A were set to 17145499; 16392115; 17679678; 17470132; 24813307; 28665811; 25316021; 16216943; 1536168; 24817410; 15958509; 28235406; 23596073; 17167479; 14985375 Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary