GRIN2D

Molecular characteristics

Pathogenic (disease causing) variants in GRIN2D are generally of de novo origin.
GRIN2D-related neurodevelopmental disorders are inherited in an autosomal dominant manner. The diagnosis of a GRIN2D-related neurodevelopmental disorder is established in a proband by identification of either a heterozygous pathogenic variant or exon or whole-gene deletion of GRIN2D on molecular genetic testing.