This Panel is marked as Retired
Epileptic encephalopathy
Gene: SCN9A
SCN9A (sodium voltage-gated channel alpha subunit 9)
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 13 panels
4 reviews
Amy McTague (UCL Institute of Child Health)
Natalie Trump (NHS - Great Ormond Street Hospital)
Manju Kurian (UCL-Institute of Child Health)
Richard Scott (North Thames GMC/UCL)
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- Complete
- Panels with this gene
-
- Familial dysautonomia
- Hereditary neuropathy or pain disorder
- Vascular skin disorders
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Pain syndromes
- Childhood onset dystonia, chorea or related movement disorder
- Brain channelopathy
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Paroxysmal central nervous system disorders
- Early onset or syndromic epilepsy
- Adult onset neurodegenerative disorder
History Filter Activity
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SCN9A was added to Epileptic encephalopathypanel. Source: Expert Review Red
13 Nov 2015, Gel status: 0
gel status update
GEL ()The Gel status was updated for this whole panel
1 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SCN9A was added to Epileptic encephalopathypanel. Sources: Expert