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Genetic epilepsy syndromes

Gene: CHRNA2

Green List (high evidence)

CHRNA2 (cholinergic receptor nicotinic alpha 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000120903
EnsemblGeneIds (GRCh37): ENSG00000120903
OMIM: 118502, Gene2Phenotype
CHRNA2 is in 3 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)

Missense mutations have been reported to cause ADNFLE, however, the aetiology of disease could be variants specific (both GOF and LOF mechanisms have been suggested). AD Nocturnal frontal lobe epilepsy 4. Aridion et al, 2006 - in all 10 aff members of a Sardinian family - het missense variant, 1 unaff family member carried the variant - suggest incomplete penetrance. Conti et al, 2015 - 7 aff members of a large family (6 with seizures) - het missense variant. In vitro functional expression studies in HEK293 cells showed that the het mutation resulted in a reduction in current denisty to ~40%. Trivisano et al, 2015 - het missense variant - segregated with disorder in the family (father and 2 daughters).
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, type 4,610353

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)

Green List (high evidence)

Comment on list classification: It is appropriate for CHRNA2 to be green on this merged epileptic panel.
Created: 9 Apr 2018, 9:14 a.m.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 variants reported in unrelated cases. CHRNA2 had previously been reviewed as red because the particular phenotype was not relevant to the individual epileptic panel, however, it is appropriate for it to be green on this merged epileptic panel.
Created: 9 Apr 2018, 9:01 a.m.
Variants in CHRNA2 do not appear to be associated with autosomal dominant nocturnal frontal lobe epilepsy in Chinese population.
Created: 11 Dec 2017, 3:06 p.m.

Publications

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, type 4

Publications

  • Aridon et al (2006) Am J Hum Genet 79: 342-350

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, type 4

Publications

  • Aridon et al (2006) Am J Hum Genet 79: 342-350

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, type 4

Publications

  • Aridon et al (2006) Am J Hum Genet 79: 342-350

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

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: Discussion amoungst reviewers by email concluded that this should be rated red. In gene2phenotype it is a possible DD gene, associated with autosomal dominant nocturnal frontal lobe epilepsy.
Created: 17 Dec 2015, 3:19 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.
Created: 17 Dec 2015, 3:14 p.m.

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Causes a different seizure phenotype
Created: 16 Dec 2015, 10:24 a.m.

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

Phenotypes
Epilepsy, nocturnal frontal lobe, type 4

Publications

  • Aridon et al (2006) Am J Hum Genet 79: 342-350

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, nocturnal frontal lobe, type 4
OMIM
118502
Clinvar variants
Variants in CHRNA2
Penetrance
None
Publications
  • Aridon et al (2006) Am J Hum Genet 79: 342-350
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 CHRNA2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CHRNA2.

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 CHRNA2. 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 CHRNA2. 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).

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CHRNA2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CHRNA2 was created by Sarah Leigh