GRIN2A-related complex neurodevelopmental disorder: genes and variants
GRIN2A-related complex neurodevelopmental disorder is linked to 1 analyzed protein (GRIN2A). 1 DNA variants are known to cause it; 12 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to GRIN2A-related complex neurodevelopmental disorder
GRIN2A: Glutamate receptor ionotropic, NMDA 2A
It helps determine the kinetics and signaling properties of NMDA receptors, particularly in cortical circuits involved in language and epilepsy. Pathogenic variants cause a spectrum of developmental epileptic encephalopathies and epilepsy-aphasia disorders.
1 disease-causing and 12 uncertain variants in GRIN2A are linked to GRIN2A-related complex neurodevelopmental disorder.
Known disease-causing variants in GRIN2A-related complex neurodevelopmental disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GRIN2A N614S | 614 | Discontinuously helical | Disease-causing (★★) |
Same protein, different disease
- Landau-Kleffner syndrome is also caused by GRIN2A variants; they fall mostly in different places as the GRIN2A-related complex neurodevelopmental disorder variants (85 disease-causing).
Diseases related to GRIN2A-related complex neurodevelopmental disorder
- Alzheimer disease, also linked to GRIN2A
- Landau-Kleffner syndrome, also linked to GRIN2A
- Epilepsy, also linked to GRIN2A
- Self-limited epilepsy with centrotemporal spikes, also linked to GRIN2A
- Schizophrenia, also linked to GRIN2A
- Dementia, also linked to GRIN2A
- Parkinson disease, also linked to GRIN2A
Frequently asked questions
Which genes are linked to GRIN2A-related complex neurodevelopmental disorder?
In CATVariant, GRIN2A-related complex neurodevelopmental disorder is linked to 1 analyzed protein: GRIN2A (Glutamate receptor ionotropic, NMDA 2A).
How many genetic variants are linked to GRIN2A-related complex neurodevelopmental disorder?
13 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in GRIN2A-related complex neurodevelopmental disorder look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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