NBEA

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 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

neurobeachin

Location
Chromosome 13 (13q13.3)


Function

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

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

Interested in learning more about this gene or sharing what you know? Contact us!

Top