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Epileptic encephalopathy

Gene: SZT2

Green List (high evidence)

SZT2 (SZT2, KICSTOR complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000198198
EnsemblGeneIds (GRCh37): ENSG00000198198
OMIM: 615463, Gene2Phenotype
SZT2 is in 4 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Phenotypes
Epileptic encephalopathy, early infantile, 18

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Phenotypes
Epileptic encephalopathy, early infantile, 18

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Phenotypes
Epileptic encephalopathy, early infantile, 18

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

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

31 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

31 Oct 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SZT2 were set to 23932106; 28893434

31 Oct 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SZT2 was changed to BIALLELIC, autosomal or pseudoautosomal

31 Oct 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SZT2 were set to Epileptic encephalopathy, early infantile, 18, 615476

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SZT2 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SZT2 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen