Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Landau-Kleffner syndrome (epilepsy-aphasia), AD - de novo or inherited mutations in multiple cases, LOF/missense, Many many cases reported and functional studes have been undertaken.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation,245570

Publications

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.
Created: 5 Jan 2016, 12:25 p.m.
Comment on phenotypes: Sources: reviewers, OMIM, G2P.
Created: 5 Jan 2016, 12:23 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.
Created: 5 Jan 2016, 12:22 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
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
None
Publications
  • Lesca et al (2013) Nature Genet 45(9) 1061-1068
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GRIN2A.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GRIN2A.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to GRIN2A. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to GRIN2A. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GRIN2A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

GRIN2A was created by Sarah Leigh