GNAO1

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 GNAO1 gene was identified in a female, age 15, with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria) (read full description).

Date of Report

Jun 08, 2017

Full Name

G protein subunit alpha o1

Location

Chromosome 16 (16q13)

Function

The GNAO1 gene codes for an alpha subunit of the guanine nucleotide-binding proteins (G proteins) (Strathmann et al., 1990).

Database Links

GeneCards: GNAO1

NCBI Gene: 2775

OMIM: 139311

UniProtKB/Swiss-Prot: P09471

Clinical Significance

Changes in the GNAO1 gene have been found in individuals with neurodevelopmental conditions. The Bow Foundation is dedicated to supporting individuals and families affected by GNAO1-related conditions.

A change in the GNAO1 gene was also identified in a UDN participant.

Gene GNAO1

Inheritance Pattern Autosomal dominant

Position (hg19) chr16:g.56370711C>A

Transcript NM_020988.2

DNA Change c.662C>A

Protein Change p.Ala221Asp

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!