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  2. Familial Focal Epilepsies
  3. CHRNB2
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Familial Focal Epilepsies

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 4 panels

2 reviews

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

Created: 12 Jun 2017, 9:52 a.m.

Panel version: 1.5

Richard Scott (Genomics England Curator)

Red List (low evidence)

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

Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 605375
OMIM
118507
Clinvar variants
Variants in CHRNB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

12 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 Feb 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

CHRNB2 was created by richardhywel

8 Feb 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

CHRNB2 was added to Familial Focal Epilepsiespanel. Sources: Literature