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Intellectual disability

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

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 14 Nov 2017, 10:36 a.m.

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional publication since last 2016 review: The patient with developmental delay and seizures in PMID:28893434 (2017) together with 2 unrelated patients with absent developmental milestones in PMID:23932106 (2013) brings the number of ID cases to meet the threshold of 3. Note that the variant described in PMID:24324832 is of uncertain significance. Biallelic MOI supported by OMIM.
Created: 29 Nov 2017, 11:19 a.m.
PMID:28893434 (2017) report a 4 yr old girl with developmental delay (DD) and seizures, and biallelic variants in SZT2. The authors suggest a broad phenotypic spectrum arises from SZT2 mutations, forming a continuum from epileptic encephalopathy and severe DD to mild ID without epilepsy.
Created: 25 Sep 2017, 1:31 p.m.
PMID:23932106 (Basel-Vanagaite et al., 2013) report 3 variants in SZT2 in 2 unrelated children with unexplained infantile epileptic encephalopathy with severe ID.
Created: 25 Sep 2017, 1:31 p.m.
PMID:24324832 (Falcone et al., 2013) report a European American consanguineous family with 3 brothers having non-syndromic mild or moderate ID without seizures. The 3 children had a 3bp homozygous deletion, leading to an amino acid deletion (p.Phe1401del) in SZT2. This variant is listed as a variant of unknown significance in OMIM as it's link to ID is not conclusive.
Created: 25 Sep 2017, 1:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 18, 615476; developmental delay; non-syndromic intellectual disability; absent developmental milestones

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Insufficient data to date
Created: 8 Feb 2016, 1:34 a.m.
Comment on list classification: Insufficient data to date
Created: 8 Feb 2016, 1:23 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile, 18, 615476
  • developmental delay
  • non-syndromic intellectual disability
  • absent developmental milestones
OMIM
615463
Clinvar variants
Variants in SZT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to SZT2. Panel: Intellectual disability Publications for gene SZT2 was set to ['28893434', ' 23932106', ' 24324832']

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SZT2 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SZT2 was created by ellenmcdonagh