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  3. GRIN2B
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Fetal anomalies

Gene: GRIN2B

Green List (high evidence)
GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B)
EnsemblGeneIds (GRCh38): ENSG00000273079
EnsemblGeneIds (GRCh37): ENSG00000273079
OMIM: 138252, Gene2Phenotype
GRIN2B is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for AUTISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, and Confirmed for EPILEPTIC ENCEPHALOPATHY.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for AUTISM and MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, and listed as All missense/in frame for EPILEPTIC ENCEPHALOPATHY.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970
  • Developmental and epileptic encephalopathy 27, OMIM:616139
OMIM
138252
Clinvar variants
Variants in GRIN2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2023, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GRIN2B were set to

10 May 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GRIN2B were changed from AUTISM; EPILEPTIC ENCEPHALOPATHY; MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970; Developmental and epileptic encephalopathy 27, OMIM:616139

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GRIN2B

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 for gene: GRIN2B

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GRIN2B was added gene: GRIN2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRIN2B were set to AUTISM