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Epileptic encephalopathy

Gene: GRIN2A

Green List (high evidence)

GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A)
EnsemblGeneIds (GRCh38): ENSG00000183454
EnsemblGeneIds (GRCh37): ENSG00000183454
OMIM: 138253, Gene2Phenotype
GRIN2A 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
Epilepsy, focal, with speech disorder and with or without mental retardation

Publications

  • Lesca et al (2013) Nature Genet 45(9) 1061-1068

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
Epilepsy, focal, with speech disorder and with or without mental retardation

Publications

  • Lesca et al (2013) Nature Genet 45(9) 1061-1068

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
Epilepsy, focal, with speech disorder and with or without mental retardation

Publications

  • Lesca et al (2013) Nature Genet 45(9) 1061-1068

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
Epilepsy, focal, with speech disorder and with or without mental retardation

Publications

  • Lesca et al (2013) Nature Genet 45(9) 1061-1068

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: All reviewers agree, confirmed DD gene for landau-kleffner syndrome and epilepsy with neurodevelopmental defects.
5 Jan 2016, 12:25 p.m.
Comment on phenotypes: Sources: reviewers, OMIM, G2P.
5 Jan 2016, 12:23 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.
5 Jan 2016, 12:22 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Epilepsy, focal, with speech disorder and with or without mental retardation
  • EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
  • LANDAU-KLEFFNER SYNDROME
OMIM
138253
Clinvar variants
Variants in GRIN2A
Penetrance
Complete
Publications
  • Lesca et al (2013) Nature Genet 45(9) 1061-1068
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 GRIN2A were set to Epilepsy, focal, with speech disorder and with or without mental retardation; EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; LANDAU-KLEFFNER SYNDROME

5 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GRIN2A were set to Epilepsy, focal, with speech disorder and with or without mental retardation; EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS

5 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GRIN2A were set to Lesca et al (2013) Nature Genet 45(9) 1061-1068

5 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GRIN2A 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)

GRIN2A 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 GRIN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN2A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN2A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert