Pathogenic variants in GLRA2 include:
1. Heterozygous de novo, gain of function variants (missense variants) in females.
2. Hemizygous de novo, or maternally-inherited loss of function variants (missense variants or intragenic deletions) in males. Of note, females carrying loss of function variants are usually asymptomatic.
A diagnosis of GLRA2-related disorder may be suspected in individuals with developmental delay, autism and seizures. Diagnosis is confirmed by single gene testing, or more commonly gene panel (such as an intellectual disability gene panel), exome sequencing or genome sequencing and deletion/duplication analysis.
GLRA2