WDR6

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 this gene was identified in an undiagnosed male, age 3, with neurodevelopmental delay, previously refractory focal epilepsy that is now well controlled, brain MRI abnormalities, and other physical differences related to the eyes, ears, and nose (read full description).

Date of Report

Feb 01, 2022

Full Name

WD Repeat Domain 6

Location

Chromosome 3 (3p21.31)

Function

This gene encodes for a protein interacts with serine and threonine kinase 11, and is involved in cell growth arrest. (Xie & Chen, 2007).

Database Links

GeneCards: WDR6

NCBI Gene: 11180

OMIM: 606031

UniProtKB/Swiss-Prot: Q9NNW5

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these compound heterozygous changes are causing symptoms in this participant.

Gene WDR6

Inheritance Pattern Unknown

Position (hg19) chr3:g.49044932G>T & g.49050420C>G

Transcript NM_018031.6

DNA Change c.68G>T & c.1453C>G

Protein Change p.Gly23Val & p.Leu485Val

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