This Panel is marked as Retired
Familial Focal Epilepsies
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
1 review
Ellen McDonagh (Genomics England Curator)
Watchlist tag added.Created: 8 Dec 2016, 10:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 7; Febrile seizures, familial, 3B
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Phenotypes
-
- Epilepsy, generalized, with febrile seizures plus, type 7
- Febrile seizures, familial, 3B
- Tags
- OMIM
- 603415
- Clinvar variants
- Variants in SCN9A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Vascular skin disorders
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
- Adult onset neurodegenerative disorder
- Brain channelopathy
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
History Filter Activity
4 Apr 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for SCN9A were set to 19763161
8 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SCN9A was added to Familial Focal Epilepsiespanel. Sources: Other
8 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SCN9A was created by ellenmcdonagh