Epileptic encephalopathy
Gene: SZT2
Phenotypes
Epileptic encephalopathy, early infantile, 18
Phenotypes
Epileptic encephalopathy, early infantile, 18
Phenotypes
Epileptic encephalopathy, early infantile, 18
Phenotypes
Epileptic encephalopathy, early infantile, 18
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.
This gene has been classified as Green List (High Evidence).
Publications for SZT2 were set to 23932106; 28893434
Mode of inheritance for SZT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for SZT2 were set to Epileptic encephalopathy, early infantile, 18, 615476
The Gel status was updated for this whole panel
SZT2 was added to Epileptic encephalopathypanel. Source: Expert Review Red
The Gel status was updated for this whole panel
SZT2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen