CHRNA2

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the CHRNA2 gene was identified in female, age 12, with a history of seizures, brain imaging abnormalities, behavioral features (ADHD, hallucinations, and sleepwalking), mild to moderate bilateral sensorineural hearing loss, and distinctive facial features (read full description).

Date of Report

May 12, 2021

Full Name

Cholinergic Receptor Nicotinic Alpha 2 Subunit

Location

Chromosome 8 (8p21.2)

Function

The CHRNA2 gene codes for an alpha subunit of the neuronal nicotinic cholinergic receptor (nAChR) (Conti et al., 2015)

Database Links

GeneCards: CHRNA2

MedlinePlus Genetics: CHRNA2

NCBI Gene: 1135

OMIM: 118502

UniProtKB/Swiss-Prot: Q15822

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene CHRNA2

Inheritance Pattern Autosomal dominant

Position (hg19) chr8:g.27336516C>A

Transcript NM_000742.3

DNA Change c.-312G>T

Protein Change N/A

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