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Genetic epilepsy syndromes

Gene: CHRNB2

Green List (high evidence)

CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000160716
EnsemblGeneIds (GRCh37): ENSG00000160716
OMIM: 118507, Gene2Phenotype
CHRNB2 is in 5 panels

10 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)

To date, missense variants have been reported to cause ADNFLE. AD Nocturnal frontal lobe epilepsy 3. On HGMD Pro - several variants associated with this phenotype. Paper by Hoda et al, 2008, states that almost all the causative variants in CHRNA4 and CHRNB2 are located in TM2 - the major ion poreforming domain of the receptor. Nichols et al 2016 - functional work done.
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, nocturnal frontal lobe, 3,605375

Publications

Mode of pathogenicity
loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Sarah Leigh (Genomics England Curator)

Comment on list classification: Appropriate for CHRNB2 to be green on this broad epilepsy panel
Created: 9 Apr 2018, 9:32 a.m.

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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

Phenotypes
Epilepsy, nocturnal frontal lobe, 3

Publications

  • De Fusco et al (2001) Nature Genet 26: 275-276

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, nocturnal frontal lobe, 3

Publications

  • De Fusco et al (2001) Nature Genet 26: 275-276

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, nocturnal frontal lobe, 3

Publications

  • De Fusco et al (2001) Nature Genet 26: 275-276

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

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Upgraded to green following the expert review (Prof. Sisodiya) and literature revision: two families described with Epilepsy, nocturnal frontal lobe, and good functional evidence in murine models carrying the mutation
Created: 12 Jun 2017, 9:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, nocturnal frontal lobe, 3 605375

Publications

Richard Scott (Genomics England Curator)

Red List (low evidence)

Insufficient data currently
Created: 8 Feb 2016, 2:48 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: The reviewers agreed later by email that this gene should be red as it is related to frontal lobe epilepsy.
Created: 29 Jan 2016, 11:43 a.m.

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Causes a different seizure phenotype
Created: 12 Nov 2015, 2:58 p.m.

Phenotypes
Epilepsy, nocturnal frontal lobe, 3

Publications

  • De Fusco et al (2001) Nature Genet 26: 275-276

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • UKGTN
  • Expert
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 3 605375
OMIM
118507
Clinvar variants
Variants in CHRNB2
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 CHRNB2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CHRNB2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Richard Scott: Causes a different seizure phe

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CHRNB2. 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 CHRNB2. Panel: Genetic Epilepsy Syndromes

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CHRNB2 were set to Epilepsy, nocturnal frontal lobe, 3 605375

9 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CHRNB2 were set to 11062464; 11104662

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CHRNB2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert,UKGTN

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CHRNB2 was created by Sarah Leigh