PHACTR1

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.

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A change in the PHACTR1 gene was identified in a 13-year-old female with unsteady gait (gait ataxia), intellectual disability, absent speech, and seizures (read full description).

Date of Report

Aug 02, 2021

Full Name

phosphatase and actin regulator 1

Location

Chromosome 6 (6p24.1)

Function

PHACTR1 encodes a protein that regulates cell morphology and movement. This protein has an important role in brain development, especially in forming synapses and neuronal migration (Hamada et al., 2018).

Database Links

GeneCards: PHACTR1

NCBI Gene: 221692

OMIM: 608723

UniProtKB/Swiss-Prot: Q9C0D0

Clinical Significance

A de novo 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 PHACTR1

Inheritance Pattern Autosomal dominant (de novo)

Position (hg19) chr6:g.12989689_ 13083604dup

Transcript NM_030948.3

DNA Change c.251-63908_415+29843dup

Protein Change Causes duplication of exon 5

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