GRIN2B is a highly conserved gene that is according to gnomAD (v4.1.0, https://gnomad.broadinstitute.org/) depleted for both missense (Z = 5.17) and null variants (pLI = 0.94; LOEUF = 0.537).
Several pathogenic missense variants in KCNA2 have been confirmed to result in either gain or loss of function of the Kv1.2 potassium channel.
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 on molecular genetic testing.
KCNA2