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: GC16P001493

Genetics Home Reference: 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 Chr16: 1547476
Transcript NM_016111
DNA Change c.800_801delTG
Protein Change p.V267fs
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