DDG2P
Gene: CHRNA2

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CHRNA2-related nocturnal frontal lobe epilepsy are strong, monoallelic_autosomal and undetermined (PMIDs: 16826524, 25770198, 25847220, 30809122). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00766.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 25770198;30809122;16826524;25847220).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

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

Phenotypes
CHRNA2-related nocturnal frontal lobe epilepsy; OMIM:610353.0; CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607; MONDO:0012474

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT. CHRNA2 also rated 'possible' for NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT.
Created: 29 Jan 2019, 12:14 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:42 p.m.

Multiple MOPs in DD-G2P download: all missense/in frame, blank. No MOP given for NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426. Multiple MOIs in DD-G2P download: monoallelic for CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607, and no MOI given for NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426. Multiple ratings in DD-G2P download: Rated child IF for CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607 and rated possible for NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.95

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607

OMIM

118502

Clinvar variants

Variants in CHRNA2

Penetrance

None

Publications

Panels with this gene