NBEA

On this page, you will find information about a genetic change that was identified in a UDN participant.

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

Mar 05, 2026

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

Simons Searchlight: NBEA

Clinical Significance

A change in this gene was identified in a UDN participant.

For more information about this gene, ongoing research, and support resources, please visit the Simons Searchlight NBEA webpage.

Gene NBEA

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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