Epileptic encephalopathy
Gene: SYNGAP1EnsemblGeneIds (GRCh38): ENSG00000197283
EnsemblGeneIds (GRCh37): ENSG00000197283
OMIM: 603384, Gene2Phenotype
SYNGAP1 is in 5 panels
4 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 5
Publications
- Hamden et al (2009) N Engl J Med 360: 599-605
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
Mental retardation, autosomal dominant 5
Publications
- Hamden et al (2009) N Engl J Med 360: 599-605
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
Mental retardation, autosomal dominant 5
Publications
- Hamden et al (2009) N Engl J Med 360: 599-605
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
Mental retardation, autosomal dominant 5
Publications
- Hamden et al (2009) N Engl J Med 360: 599-605
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Mental retardation, autosomal dominant 5
- OMIM
- 603384
- Clinvar variants
- Variants in SYNGAP1
- Penetrance
- Complete
- Publications
-
- Hamden et al (2009) N Engl J Med 360: 599-605
- 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 SYNGAP1 were set to Mental retardation, autosomal dominant 5
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SYNGAP1 were set to Hamden et al (2009) N Engl J Med 360: 599-605
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SYNGAP1 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)SYNGAP1 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 SYNGAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SYNGAP1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SYNGAP1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert