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  2. BRIDGE_SPEED_NEURO_20170705
  3. CHRNA4
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BRIDGE_SPEED_NEURO_20170705

Gene: CHRNA4

Green List (high evidence)
CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)
EnsemblGeneIds (GRCh38): ENSG00000101204
EnsemblGeneIds (GRCh37): ENSG00000101204
OMIM: 118504, Gene2Phenotype
CHRNA4 is in 4 panels

2 reviews

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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;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

Mode of pathogenicity
Other

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

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 9:38 a.m.
Created: 31 Jul 2017, 9:38 a.m.

Panel version: 0.32

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, 1, 600513
  • {Nicotine addiction, susceptibility to}, 188890
OMIM
118504
Clinvar variants
Variants in CHRNA4
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CHRNA4 were set to Epilepsy, nocturnal frontal lobe, 1, 600513; {Nicotine addiction, susceptibility to}, 188890

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CHRNA4 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CHRNA4 was created by LouiseD