Gene Symbol:
GRIN2A
HGNC:4585
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p13.2
Filters:

Definitive classifications

complex neurodevelopmental disorder
AD
07/16/2019
Evaluated
04/21/2024
Submitted
Landau-Kleffner syndrome
Submitted as: OMIM:245570
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Landau-Kleffner syndrome
Submitted as: OMIM:245570
AD
01/14/2019
Evaluated
03/02/2021
Submitted
Landau-Kleffner syndrome
Submitted as: OMIM:245570
AD
02/01/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

childhood epilepsy with centrotemporal spikes
Submitted as: Orphanet:1945
AD
09/14/2021
Evaluated
09/14/2021
Submitted
continuous spikes and waves during sleep
Submitted as: Orphanet:725
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Landau-Kleffner syndrome
Submitted as: Orphanet:98818
AD
09/14/2021
Evaluated
09/14/2021
Submitted
rolandic epilepsy-speech dyspraxia syndrome
Submitted as: Orphanet:163721
AD
09/14/2021
Evaluated
09/14/2021
Submitted
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Submitted as: Orphanet:289266
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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