Fetal anomalies
Gene: GRIN2B

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

2 reviews

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, 11:16 p.m. | Last Modified: 27 Aug 2020, 11:16 p.m.

Panel Version: 0.2885

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, 11:16 p.m.
Last Modified: 27 Aug 2020, 11:16 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2885

Lauren Akesson (Royal Melbourne Hospital)

Green List (high evidence)

PMID: 28377535 - Neuroimaging was performed in 44 of 58 patients: six unrelated patients (6/44, 14%) showed a consistent MCD intermediate between typical polymicrogyria (PMG) and the cortical appearance of tubulinopathies, consisting of mixed large and small gyri separated by shallow sulci, a smooth grey-white border and little infolding. These patients also had hypoplastic corpus callosum of varying degrees, enlarged and mildly dysplastic basal ganglia, hippocampal dysplasia with thick leaves and open hilus as well as enlarged tecta. One patient had no septum pellucidum. Generalised cerebral volume loss, compatible with cerebral atrophy, was described in four additional patients (4/44; 9%).
Created: 21 May 2020, 1:52 a.m. | Last Modified: 21 May 2020, 1:52 a.m.

Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
GRIN2B-related neurodevelopmental disorder

Publications

PMID: 28377535

Created: 21 May 2020, 1:52 a.m.
Last Modified: 21 May 2020, 1:52 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.57

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

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