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.

Changes in this gene were identified in two UDN participants.

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: FAT1

NCBI Gene: 2195

OMIM: 600976

UniProtKB/Swiss-Prot: Q14517

Clinical Significance

Changes in this gene were identified in two UDN participants.

Participant 114, a 10-year-old male with severe global developmental delay, seizures, and aggressive behavior was found to carry the following genetic change in the FAT1 gene:

c.2894G>A/p.Ser965Asn (inheritance pattern: autosomal dominant, position: chr4:g.187628088C>T, transcript: NM_005245.4)

Research is underway to see if this change is causing symptoms in this participant.

Participant 222, an 11-year-old male with gross motor delay, language impairment (aphasia), and autism was found to carry the following genetic changes in the FAT1 gene:

c.12671C>G/p.Ala4224Gly (inheritance pattern: unknown, position: chr4:g.187518023G>C, transcript: NM_005245.4)
c.13582G>A/p.Glu4528Lys (inheritance pattern: unknown, position: chr4:g.187628088C>T, transcript: NM_005245.4)

Research is underway to see if this change is causing symptoms in this participant.

Gene FAT1

Inheritance Pattern see gene page

Position (hg19) see gene page

Transcript see gene page

DNA Change see gene page

Protein Change see gene page

Contact Us

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