Epileptic encephalopathy
Gene: GRIN2BEnsemblGeneIds (GRCh38): ENSG00000273079
EnsemblGeneIds (GRCh37): ENSG00000273079
OMIM: 138252, Gene2Phenotype
GRIN2B is in 5 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
- Endele et al (2010) Nature Genet 42(11): 1021-1028
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
- Endele et al (2010) Nature Genet 42(11): 1021-1028
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
- Endele et al (2010) Nature Genet 42(11): 1021-1028
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
- Endele et al (2010) Nature Genet 42(11): 1021-1028
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on phenotypes: Sources: reviewers, OMIM, G2P.Created: 5 Jan 2016, 12:33 p.m.
Comment on mode of inheritance: Checked imprinted gene list, G2P, OMIM.Created: 5 Jan 2016, 12:32 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Mental retardation, autosomal dominant 6
- Epileptic encephalopathy, early infantile, 27
- EPILEPTIC ENCEPHALOPATHY
- AUTISM
- OMIM
- 138252
- Clinvar variants
- Variants in GRIN2B
- Penetrance
- Complete
- Publications
-
- Endele et al (2010) Nature Genet 42(11): 1021-1028
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GRIN2B were set to Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27; EPILEPTIC ENCEPHALOPATHY; AUTISM
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GRIN2B were set to Endele et al (2010) Nature Genet 42(11): 1021-1028
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GRIN2B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)GRIN2B was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GRIN2B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)GRIN2B was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)GRIN2B was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert