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  3. SCN9A
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

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 13 panels

1 review

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Not able to find any evidence that variants in this gene are associated with movement disorder.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Congenital Indifference to Pain
  • Paroxysmal Extreme Pain Disorder
  • Dysosteosclerosis
  • Hereditary Sensory Neuropathy
  • Erythermalgia, Primary
  • Erythermalgia, primary, 133020
  • Febrile seizures, familial, 3B, 613863
  • Insensitivity to pain, channelopathy-associated, 243000
  • Paroxysmal extreme pain disorder, 167400
OMIM
603415
Clinvar variants
Variants in SCN9A
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SCN9A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Dysosteosclerosis; Hereditary Sensory Neuropathy; Erythermalgia, Primary; Erythermalgia, primary, 133020; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Paroxysmal extreme pain disorder, 167400 for gene: SCN9A

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to SCN9A.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SCN9A was added gene: SCN9A was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: SCN9A was set to