Epileptic encephalopathy
Gene: SYNGAP1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 5
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 5
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 5
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 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Phenotypes for SYNGAP1 were set to Mental retardation, autosomal dominant 5
Publications for SYNGAP1 were set to Hamden et al (2009) N Engl J Med 360: 599-605
Mode of inheritance for SYNGAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
SYNGAP1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene SYNGAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SYNGAP1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
SYNGAP1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert