PRR32

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 PRR32 gene was identified in a male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), and excess curvature of the spine (kyphosis, scoliosis) (read full description).

Date of Report

Feb 21, 2019

Full Name

proline rich 32

Location
Chromosome X (Xq25)


Function

Database Links

GeneCards: GC0XP126819

NCBI Gene: 100130613

UniProtKB/Swiss-Prot: B1ATL7

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 PRR32
Inheritance Pattern Unknown
Position ChX: 125955222
Transcript NM_001122716
DNA Change c.601C>T
Protein Change p.R201X
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