TLK2

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.

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A change in the TLK2 gene was identified in a male, age 9, with seizures, developmental delay, and enlarged ears (macrotia) (read full description).

Date of Report

Mar 03, 2022

Full Name

Tousled-Like Kinase 2

Location

Chromosome 17 (17q23.2)

Function

The TLK2 gene encodes a nuclear serine/threonine kinase. The protein is involved in regulation of chromatin assembly during S phase of the cell cycle (Sillije et al., 1999).

Database Links

GeneCards: TLK2

NCBI Gene: 11011

OMIM: 608439

UniProtKB/Swiss-Prot: Q86UE8

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 TLK2

Inheritance Pattern Unknown

Position (hg19) chr17:g.60679435G>A

Transcript NM_006852.3

DNA Change c.1753G>A

Protein Change p.Gly585Arg

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