Fetal anomalies
Gene: GRIN2D

GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D)
EnsemblGeneIds (GRCh38): ENSG00000105464
EnsemblGeneIds (GRCh37): ENSG00000105464
OMIM: 602717, Gene2Phenotype
GRIN2D is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as Activating.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

OMIM

602717

Clinvar variants

Variants in GRIN2D

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GRIN2D was added gene: GRIN2D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

Fetal anomalies Gene: GRIN2D