FAT1

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 10 with severe global developmental delay, seizures, and aggressive behavior (read full description).

Date of Report

Mar 11, 2019

Full Name

FAT atypical cadherin 1

Location

Chromosome 4 (4q35.2)

Function

The FAT1 gene plays a variety of roles in muscle and nervous system development and function (Caruso et al., 2013).

Database Links

GeneCards: GC04M186587

NCBI Gene: 2195

OMIM: 600976

UniProtKB/Swiss-Prot: Q14517

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 FAT1

Inheritance Pattern Autosomal dominant

Position (hg19) Chr4:187628088

Transcript NM_005245

DNA Change c.2894G>A

Protein Change p.S965N

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