Pathogenic (disease causing) variants in GRIN2B are generally of de novo origin. Several pathogenic variants in GRIN2B have been confirmed to result in either gain or loss of function of the NMDA receptor.
GRIN2B-related neurodevelopmental disorders are inherited in an autosomal dominant manner. The diagnosis of a GRIN2B-related neurodevelopmental disorder is established in a proband by identification of either a heterozygous pathogenic variant or exon or whole-gene deletion of GRIN2B on molecular genetic testing.
GRIN2B