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Genetic epilepsy syndromes

Gene: SCN3A

Green List (high evidence)

SCN3A (sodium voltage-gated channel alpha subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000153253
EnsemblGeneIds (GRCh37): ENSG00000153253
OMIM: 182391, Gene2Phenotype
SCN3A is in 4 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD EIEE62 and familial focal epilepsy 4 (FFEVF4). EIEE62: Zaman et al, 2018 - in 4 unrelated epilepsy patients, identifed 3 diff de novo het missense mutations. Whole cell voltage clamp electrophysiological recordings showed the mutant channel had an increase of a slowly inactivating/noninactivating persistent current compared to controls - GOF. FFEVF4: Vanoye et al, 2014 - 4 unrelated patients - 4 diff het missense mutations (genetic screening in 179 pediatric epilepsy patients). In vitro functional expression showed that the variants caused variablew defects of channel function with only some altering the activation and/or inactivation kinetics, however all variants resulted in increased inward currents during a slow depolarising voltage ramp, indicating channel dysfunction capable of enhanicng the response to subthreshold depolarising inputs and promoting hyperexcitability networks. Lamar et al, 2017 - de novo het missense variant, In vitro studies showed it had not detectable sodium current resulting from significant reduction of mutant SCN3A at the cell surface.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy familial focal with variable foci, 617935 AD; Epileptic encephalopathy early infantile, 617938

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene for focal epilespy. At least 4 variants have been reported in 4 cases of Epilepsy, familial focal, with variable foci 4 617935 and 3 variants in 4 cases.
Created: 31 Jul 2018, 10:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epilepsy, familial focal, with variable foci 4 617935; Epileptic encephalopathy, early infantile, 62 617938

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, familial focal, with variable foci 4 617935
  • Epileptic encephalopathy, early infantile, 62 617938
OMIM
182391
Clinvar variants
Variants in SCN3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SCN3A.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SCN3A.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

31 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: scn3a has been classified as Green List (High Evidence).

31 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: scn3a has been classified as Green List (High Evidence).

31 Jul 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SCN3A was added to Genetic Epilepsy Syndromes panel. Sources: Literature

31 Jul 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SCN3A was created by Sarah Leigh