Genomics England
GMS Panels
Panels
Genes and Entities

CHRNB2

cholinergic receptor nicotinic beta 2 subunit
OMIM: 118507
PanelMode of inheritanceDetails
1 panel
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, 3 605375