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Epileptic encephalopathy

Gene: CHRNA2

Red List (low evidence)

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

6 reviews

Sarah Leigh (Genomics England Curator)

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

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
  • Expert Review Red
  • Expert
Phenotypes
  • Epilepsy, nocturnal frontal lobe, type 4
OMIM
118502
Clinvar variants
Variants in CHRNA2
Penetrance
Complete
Publications
  • Aridon et al (2006) Am J Hum Genet 79: 342-350
Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CHRNA2 were set to Aridon et al (2006) Am J Hum Genet 79: 342-350

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CHRNA2 were set to Epilepsy, nocturnal frontal lobe, type 4

17 Dec 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CHRNA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNA2 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CHRNA2 was added to Epileptic encephalopathypanel. Sources: Expert