Epileptic encephalopathy
Gene: GRIN2B
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 6
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for GRIN2B were set to Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27; EPILEPTIC ENCEPHALOPATHY; AUTISM
Publications for GRIN2B were set to Endele et al (2010) Nature Genet 42(11): 1021-1028
Mode of inheritance for GRIN2B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
GRIN2B was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene GRIN2B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GRIN2B was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
GRIN2B was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert