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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Changes in this gene were identified in a female, age 18, with seizures, regression and brain abnormalities (cortical dysplasia, brain atrophy), diagnosed with Dentatorubral-pallidoluysian atrophy (read full description).

Date of Report

Nov 09, 2020

Full Name

atrophin 1

Chromosome 12 (12p13.31)

ATN1 codes for a class of conserved transcriptional compressors, and is thought to play a role in nuclear transcription regulation involved in brain and other organ development (Palmer et al., 2019).
Database Links

GeneCards: ATN1

MedlinePlus Genetics: ATN1

NCBI Gene: 1822

OMIM: 607462

UniProtKB/Swiss-Prot: P54259

Clinical Significance

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

Gene ATN1
Inheritance Pattern Autosomal dominant
Position (hg19) N/A
Transcript NM_001940.4
DNA Change Repeat expansion - 65 repeats
Protein Change N/A
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