BRIDGE_SPEED_NEURO_20170705
Gene: CHRNB2

CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000160716
EnsemblGeneIds (GRCh37): ENSG00000160716
OMIM: 118507, Gene2Phenotype
CHRNB2 is in 4 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_201507;in_ddg2p_2_4_2017;in_omim_20150205_epilepsies . Main mutation mechanism : Activating;
Created: 28 Jul 2017, 8:55 a.m.

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

Publications

25529582
omim.org

Mode of pathogenicity

Created: 2 Aug 2017, 1:54 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Epilepsy, nocturnal frontal lobe, 3, 605375

OMIM

118507

Clinvar variants

Variants in CHRNB2

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CHRNB2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created