Genetic Epilepsy
Gene: GRIN2B

GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B)
EnsemblGeneIds (GRCh38): ENSG00000273079
EnsemblGeneIds (GRCh37): ENSG00000273079
OMIM: 138252, Gene2Phenotype
GRIN2B is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 individuals reported, with intellectual disability, seizures, hypotonia, movement disorder, and autistic features. Some individuals may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (so likely a single disorder).
Created: 27 Aug 2020, 11:20 p.m. | Last Modified: 27 Aug 2020, 11:20 p.m.

Panel Version: 0.807

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 6, MIM# 613970; Epileptic encephalopathy, early infantile, 27, MIM# 616139

Publications

28377535

Created: 27 Aug 2020, 11:20 p.m.
Last Modified: 27 Aug 2020, 11:20 p.m.
Panel version: 0.807

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Mental retardation, autosomal dominant 6, MIM# 613970
Epileptic encephalopathy, early infantile, 27, MIM# 616139

OMIM

138252

Clinvar variants

Variants in GRIN2B

Penetrance

None

Publications

28377535

Panels with this gene