P648: De novo GLUL missense variant in individual with neurodevelopmental disorder prompts ClinGen gene curation, ClinVar submission, and new GeneMatcher cohort
Abstract
In the brain, glutamine synthetase, encoded by the GLUL gene, catalyzes the ATP-dependent conversion of neurotoxic glutamate to harmless glutamine. The roles of GLUL are tissue specific, and the predicted damaging effects due to lack of or aberrant GLUL function are based on the local tissues. Damaging effects to the brain include the inability to detoxify ammonia and recycle neurotransmitter function. Biallelic pathogenic missense variants are associated with autosomal recessive congenital brain dysgenesis due to glutamate synthase deficiency.
Fields of Study & Subjects
Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
Metabolism and Genetic Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104138–104138
- Publication date
- 1 January 2026
- Language
- EN