Epileptic encephalopathy
Gene: GRIN2AEnsemblGeneIds (GRCh38): ENSG00000183454
EnsemblGeneIds (GRCh37): ENSG00000183454
OMIM: 138253, Gene2Phenotype
GRIN2A is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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
-
- 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
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 GRIN2A were set to Epilepsy, focal, with speech disorder and with or without mental retardation; EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; LANDAU-KLEFFNER SYNDROME
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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GRIN2A were set to Lesca et al (2013) Nature Genet 45(9) 1061-1068
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GRIN2A 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)GRIN2A 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 GRIN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)GRIN2A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)GRIN2A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert