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Genetic epilepsy syndromes

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

6 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Early infantile epileptic encephalopathy - early onset refractory seizures - Basel-Vanagaite et al 2013 - 2 unrelated patients had hom truncating SZT2 mutations. Vanderver et al 2016 - A patient with leukodystrohy also found to be compound het for 2 SZT2 variants - no mention of epilepsy, Tsuchida et al, 2017 - 7 patients from 5 families with EIEE (includes Basel Vangagaite cases, Venkatesen et al Vanderver et al and Falcone et al) all hom/compound her. No seizures mentioned for Vanderver and Venkatesen individuals.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 615476

Publications

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)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 18,
OMIM
615463
Clinvar variants
Variants in SZT2
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SZT2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SZT2.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Rebecca Foulger: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SZT2. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SZT2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Radboud University Medical Center, Nijmegen

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SZT2 was created by Sarah Leigh