PUM2

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 male, age 14 with gross motor and language delay, borderline intellectual disability, and damage to the optic nerve (optic atrophy) (read full description).

Date of Report

Jun 17, 2019

Full Name

pumilio RNA binding family member 2

Location
Chromosome 2 (2p24.1)


Function

The PUM2 gene codes for an RNA binding protein that is highly conserved through evolution (Spassov DS., Jurecic R., 2002).

Database Links

GeneCards: GC02M020249

NCBI Gene: 23369 

OMIM: 607205

UniProtKB/Swiss-Prot: Q8TB72

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 PUM2
Inheritance Pattern de novo
Position Chr2:20518297
Transcript NM_015317.1
DNA Change c.160+1G>A
Protein Change N/A
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