P298: Establishing GABBR1 disease association

Genetics in Medicine Open 2026 Open access

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Authors: Judit Perez Ortiz, Joseph D. Farris, Roe Chianis, Christopher T. Schmitz, Maria O'Connell, Filippo Pinto e Vairo, Laura J. Lambert
DOI: 10.1016/j.gimo.2026.103792
Cited by: 0

Abstract

We encountered a 3-year-old child with developmental delay, stereotypies, and abnormal MRI with a de novo GABBR1 missense VUS, and an unrelated 6-year-old adopted child with developmental delay and infantile-onset intractable epilepsy with a different GABBR1 missense VUS. Both VUS are rare with high in silico pathogenicity prediction scores. GABBR1 has not met disease-association criteria according to ClinGen Gene Curation Working Group criteria and thus is a gene of uncertain significance (GUS).

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Epilepsy research and treatment

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103792–103792
Publication date
1 January 2026
Language
EN