GNAO1

On this page, you will find information about a genetic change that was identified in a UDN participant. 

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 this 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)
GNAO1-1.png

Function

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

Database Links

GeneCards: GC16P056231

Genetics Home Reference: GNAO1 gene

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 Chr16:56370711
Transcript NM_020988
DNA Change c.662C>A
Protein Change p.A221D
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