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GRIN2A

glutamate ionotropic receptor NMDA type subunit 2A

HCNC Approved Symbol
GRIN2A (HGNC:4585)
Genomic Coordinates
16:9,753,404 - 10,182,908 (16p13.2)
Synonyms
GluN2A, NR2A, NMDAR2A
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Epilepsy, focal, with speech disorder and with or without impaired intellectual development
245570AD

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the GRIN2A gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Epilepsy
 5 (35.7%)
Intellectual disability
 3 (21.4%)
Mental retardation
 3 (21.4%)
Seizures
 3 (21.4%)
Global developmental delay
 3 (21.4%)