CDK18

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 a female, age 25 with Landau-Kleffner syndrome and progressive lower limb weakness (read full description). 

Date of Report

Sep 20, 2018

Full Name

cyclin dependent kinase 18

Location
Chromosome 1q32.1


Function

Cyclin-dependent kinases (CDKs) coordinate cell cycle checkpoints with DNA repair mechanisms that together maintain genome stability. CDK18 may play a role in signal pathways in cells (Malumbres et al. 2009).

Database Links

GeneCards: GC01P205504

NCBI Gene: 5129

OMIM: 169190

UniProtKB/Swiss-Prot: Q07002

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 CDK18
Inheritance Pattern Unknown
Position Chr1:205492739
Transcript NM_002596
DNA Change c.259C>T
Protein Change p.R87C
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