TELO2

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 TELO2 gene was identified in a male who passed away at age 2 with symptoms characteristic of You-Hoover-Fong syndrome (read full description).

Date of Report

Jan 25, 2019

Full Name

telomere maintenance 2

Location

Chromosome 16 (16p13.3)

Function

TELO2 codes for a protein that has a critical role in checkpoint responses to cellular stress (Takai et al., 2007).

Database Links

GeneCards: TELO2

NCBI Gene: 9894

OMIM: 611140

UniProtKB/Swiss-Prot: Q9Y4R8

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change, along with a change in the TTI2 gene, is causing symptoms in this participant.

Gene TELO2

Inheritance Pattern Autosomal recessive

Position (hg19) chr16:g.1547479_1547480del

Transcript NM_016111.3

DNA Change c.800_801delTG

Protein Change p.Val267AlafsTer12

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!