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.

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A change in the NBEA gene was identified in a female, age 11, with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremor, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay (read full description).

Date of Report

Aug 25, 2021

Full Name


Chromosome 13 (13q13.3)


The NBEA gene codes for proteins that bind and localize other proteins to the membrane of a cell (Trendelenburg et al., 1996).

Database Links

GeneCards: NBEA

NCBI Gene: 26960

OMIM: 604889

UniProtKB/Swiss-Prot: Q8NFP9

Clinical Significance

A change in this gene was identified in a UDN participant

Inheritance Pattern Unknown
Position (hg19) chr13:g.35883725G>A
Transcript NM_015678.4
DNA Change c.5899G>A
Protein Change p.Gly1967Arg
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