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Genetic epilepsy syndromes

Gene: SCN1B

Green List (high evidence)

SCN1B (sodium voltage-gated channel beta subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000105711
EnsemblGeneIds (GRCh37): ENSG00000105711
OMIM: 600235, Gene2Phenotype
SCN1B is in 8 panels

9 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)

AR EIEE52, AD generalised epilepsy with febrile seizures and also assoc with atrial fibrillation, cardiac conduction defect and Brugada syndrome. AD epilepsy - Wallace et al 1998 and 2002 - 2 Australian families with this variant. First family large 6 generation family where 42 individuals had a history of seizures. Did see unaffected carriers suggests reduced penetrance . AR epilepsy - Patino et al, 2009 - boy born of consang Moroccan parents - hom missense variant, in vitro functional studies showed that the mutant protein was poorly expressed at the cell surface, despite robist intracellular expression, consistent with a tracking defect to the membrane. Carrier parents did not have seizures. Ogiwara et al, 2012 - Japanese man with unrelated parents hom for a missense variant. Functional work not done. 17 different variants reported on HGMD Pro in association with epilepsy/seizures and number of cases 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Atrial fibrillation, familial,615377; Brugada syndrome,612838; Cardiac conduction defect, nonspecific,612838; Epilepsy, generalized, with febrile seizures plus, type 1,604233; Epileptic encephalopathy, early infantile, 52,617350

Publications

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Epilepsy, generalized, with febrile seizures plus, type 1 604233 monoallelic not imprinted;
Epileptic encephalopathy, early infantile, 52 617350 biallelic
Created: 4 Apr 2018, 3:02 p.m.

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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

Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1

Publications

  • Wallace et al (2002) Neurology 58: 1426-1429

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

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

Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1

Publications

  • Wallace et al (2002) Neurology 58: 1426-1429

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

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

Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1

Publications

  • Wallace et al (2002) Neurology 58: 1426-1429

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

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

Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1

Publications

  • Wallace et al (2002) Neurology 58: 1426-1429

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (Genomics England Curator)

Comment on list classification: Evidence of pathogenicity exists for M_001037.4(SCN1B):c.363C>G (p.Cys121Trp); few if any other variants have sufficient evidence for pathogenicity currently
Created: 8 May 2016, 7:11 p.m.

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Mode of inheritance and loss-of-function mechanism confirmed.
Created: 21 Jan 2016, 11:52 a.m.
Comment on mode of inheritance: Confirmed and not on imprinted gene list.
Created: 21 Jan 2016, 11:51 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 1 604233 AD
  • Epileptic encephalopathy, early infantile, 52 617350 AR
OMIM
600235
Clinvar variants
Variants in SCN1B
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 SCN1B.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SCN1B.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SCN1B. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SCN1B. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SCN1B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Apr 2018, Gel status: 4

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Apr 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCN1B were set to Epilepsy, generalized, with febrile seizures plus, type 1 604233 AD; Epileptic encephalopathy, early infantile, 52 617350 AR

4 Apr 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCN1B were set to 12011299; 16205844; 9697698

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SCN1B was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SCN1B was created by Sarah Leigh