Previous symbols: NMDAR2B. Aliases: GluN2B, NR2B.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Autosomal Dominant Non-Syndromic Intellectual Disability | causative de novo |
mechanism: Disrupted Synaptic Transmission and Plasticity
|
| GRIN2B-Related Developmental and Epileptic Encephalopathy | causative germline | |
| Intellectual Disability, Autosomal Dominant 6 | causative de novo loss of function |
mechanism: GRIN2B Haploinsufficiency and Loss-of-Function Variation
|
| Infantile Spasms | no genetic record |
mechanism: Heterogeneous developmental brain etiologies
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| complex neurodevelopmental disorder MONDO:0100038 | AD | Definitive 2019-03-19 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.