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Updated: Jun 7, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in Dystonia

Elisabetta Indelicato1,2,3, Anna Eberl1, Sylvia Boesch1

  • 1Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.

Movement Disorders : Official Journal of the Movement Disorder Society
|November 21, 2024
PubMed
Summary

The new Genome Aggregation Database (gnomAD) v4 includes more variants, impacting dystonia gene interpretation. Some pathogenic dystonia variants now appear in gnomAD v4, highlighting the need for careful variant assessment.

Keywords:
KMT2Ballele frequencydystoniagnomADvariant interpretation

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