FAT4

On this page, you will find information about genetic changes that were 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.

Changes in this gene were identified in a male, age 10 with severe global developmental delay, seizures, and aggressive behavior (read full description).

Date of Report

Mar 11, 2019

Full Name

FAT atypical cadherin 4

Location

Chromosome 4 (4q28.1)

Function

The FAT4 gene codes for a protein responsible for proper orientation of cell components (Saburi, et al., 2008)

Database Links

GeneCards: FAT4

MedlinePlus Genetics: FAT4

NCBI Gene: 79633

OMIM: 612411

UniProtKB/Swiss-Prot: Q6V017

Clinical Significance

Two changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene FAT4

Inheritance Pattern Autosomal recessive

Position (hg19) chr4:g.126372145G>A & g.126371302C>T

Transcript NM_024582.6

DNA Change c.9974G>A & c.9131C>T

Protein Change p.Arg3325His, p.Ala3044Val

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