UTP6

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 UDN participant with short stature, hearing loss, heart differences, gross motor delay, and low muscle tone (read full description).

Date of Report

Aug 29, 2022

Full Name

UTP6 small subunit processome component

Location

Chromosome 17 (17q11.2)

Function

Enables protein and snoRNA binding (Gaudet et al., 2011; Haenig et al., 2020).

Database Links

GeneCards: UTP6

NCBI Gene: 55813

UniProtKB/Swiss-Prot: Q9NYH9

Clinical Significance

A de novo 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 UTP6

Inheritance Pattern Autosomal dominant

Position (hg19) chr17:g.30214254C>T

Transcript NM_018428.2

DNA Change c.621+1G>A

Protein Change N/A

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