DOCK10

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 DOCK10 gene was identified in a female, age 4 with seizures, global developmental delay, and optic nerve hypoplasia (read full description).

Date of Report

Feb 07, 2019

Full Name

dedicator of cytokinesis 10

Location
Chromosome 2 (2q36.2)
Chr2.225781446.png

Function

The DOCK10 gene is responsible for the production of guanosine nucleotide exchange factors for Rho GTPases that play an important role in the formation of neural cells (Jaudon, et al., 2015).

Database Links

GeneCards: GC02M224765

NCBI Gene: 55619

OMIM: 611518

UniProtKB/Swiss-Prot: Q96BY6

Clinical Significance

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

Gene DOCK10
Inheritance Pattern Unknown
Position Chr2:225781446
Transcript NM_014689.2
DNA Change c.279C>T
Protein Change p.Y93Y
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