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Genetic epilepsy syndromes

Gene: SCN2B

Red List (low evidence)

SCN2B (sodium voltage-gated channel beta subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000149575
EnsemblGeneIds (GRCh37): ENSG00000149575
OMIM: 601327, Gene2Phenotype
SCN2B is in 3 panels

6 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: Red.
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)

Red List (low evidence)

AD familial atrial fibrillation 14. Watanabe et al, 2009 - 2 unrelated men with atrial fibrillation and mutations in this gene - No mention of epilepsy/seizures on OMIM.
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
Atrial fibrillation, familial, 14, 615378

Publications

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Sources
  • Expert Review Red
  • Expert
OMIM
601327
Clinvar variants
Variants in SCN2B
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SCN2B.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SCN2B.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SCN2B was added to Genetic Epilepsy Syndromes panel. Sources: Expert,Expert Review Red

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SCN2B was created by Sarah Leigh