Epileptic encephalopathy
Gene: GRIN2A
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for GRIN2A were set to Epilepsy, focal, with speech disorder and with or without mental retardation; EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; LANDAU-KLEFFNER SYNDROME
Phenotypes for GRIN2A were set to Epilepsy, focal, with speech disorder and with or without mental retardation; EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
Publications for GRIN2A were set to Lesca et al (2013) Nature Genet 45(9) 1061-1068
Mode of inheritance for GRIN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
GRIN2A was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene GRIN2A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GRIN2A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
GRIN2A was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert