Table 1.

Molecular Genetic Testing Used in GRIN2D-Related DEE

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
GRIN2D Sequence analysis 322/22 4
Gene-targeted deletion/duplication analysis 5None reported 6
1.
2.

See Molecular Genetics for information on variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

To date, all reported GRIND2D-related DEE pathogenic variants have been missense variants [Li et al 2016, Tsuchida et al 2018, Xiang-Wei et al 2019, Stenson et al 2020, Bertoli-Avella et al 2021, Jiao et al 2021, GRIN Portal/Registry].

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

To date, GRIN2D null variants (including large deletions/duplications) have not been identified as a cause of GRIN2D-related DEE.

From: GRIN2D-Related Developmental and Epileptic Encephalopathy

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