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Epileptic encephalopathy

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

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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

5 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Jan 2016, Gel status: 4

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

5 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GRIN2B were set to Endele et al (2010) Nature Genet 42(11): 1021-1028

5 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GRIN2B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN2B was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

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

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN2B was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN2B was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert