Epileptic encephalopathy
Gene: SZT2EnsemblGeneIds (GRCh38): ENSG00000198198
EnsemblGeneIds (GRCh37): ENSG00000198198
OMIM: 615463, Gene2Phenotype
SZT2 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Phenotypes
Epileptic encephalopathy, early infantile, 18
Natalie Trump (NHS - Great Ormond Street Hospital)
Phenotypes
Epileptic encephalopathy, early infantile, 18
Manju Kurian (UCL-Institute of Child Health)
Phenotypes
Epileptic encephalopathy, early infantile, 18
Richard Scott (North Thames GMC/UCL)
Phenotypes
Epileptic encephalopathy, early infantile, 18
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green based on new publications, and after agreement from Helen Brittain. 3 cases (PMID:23932106s and 28893434) reach the threshold for green rating, and variants are predicted loss of function. Although the severity varies, patients do have seizures and ID.Created: 31 Oct 2017, 1:16 p.m.
2 unrelated cases of early-onset epileptic encephalopathy in PMID:23932106 (2013). Plus a 4yr old girl in PMID:28893434 (2017) with DD and seizures from two years of age. Phenotype is variable between patients, with spectrum of seizures and severity of ID/DD.Created: 31 Oct 2017, 1:10 p.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM.Created: 31 Oct 2017, 1:09 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 18, 615476
- OMIM
- 615463
- Clinvar variants
- Variants in SZT2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for SZT2 were set to 23932106; 28893434
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for SZT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SZT2 were set to Epileptic encephalopathy, early infantile, 18, 615476
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SZT2 was added to Epileptic encephalopathypanel. Source: Expert Review Red
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SZT2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen