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Genetic epilepsy syndromes

Gene: SLC2A1

Green List (high evidence)

SLC2A1 (solute carrier family 2 member 1)
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels

9 reviews

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD & AR GLUT1 deficiency syndrome, AD stomatin-deficient cryohydrocytosis & AD generalsied idiopathic epilepsy all of these have epilepsy as a feature of disease. Also AD Dystonia type 9 - of which seizures are sometimes observed.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dystonia 9,601042; GLUT1 deficiency syndrome 1, infantile onset, severe,606777; GLUT1 deficiency syndrome 2, childhood onset,612126; Stomatin-deficient cryohydrocytosis with neurologic defects,608885; {Epilepsy, idiopathic generalized, susceptibility to, 12},614847

Publications

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: GLUT1 deficiency syndrome 1, infantile onset, severe 606777 can be mono or biallelic, the other phenotypes associated with variants in the SLC2A1 gene are all monoallelic
Created: 4 Apr 2018, 3:49 p.m.

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dystonia 9

Publications

  • Weber et al (2011) Neurology 77: 959-964

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dystonia 9

Publications

  • Weber et al (2011) Neurology 77: 959-964

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dystonia 9

Publications

  • Weber et al (2011) Neurology 77: 959-964

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dystonia 9

Publications

  • Weber et al (2011) Neurology 77: 959-964

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (Genomics England Curator)

Comment on list classification: ok
Created: 8 May 2016, 7:03 p.m.

Ellen McDonagh (Genomics England Curator)

Added the tag 'treatable' as a ketogenic diet can help ameloriate symptoms (PMID: 29303961).
Created: 19 Aug 2019, 9:58 a.m. | Last Modified: 19 Aug 2019, 9:58 a.m.
Panel Version: 1.254
Comment on mode of inheritance: Confirmed with reviewer that both is relevant (OMIM).
Created: 29 Jan 2016, 5:23 p.m.

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Dystonia 9 601042 AD
  • GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR
  • GLUT1 deficiency syndrome 2, childhood onset 612126 AD
  • Stomatin-deficient cryohydrocytosis with neurologic defects 608885 AD
  • {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847
Tags
treatable
OMIM
138140
Clinvar variants
Variants in SLC2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 3

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: SLC2A1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SLC2A1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SLC2A1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SLC2A1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC2A1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Apr 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC2A1 were set to Dystonia 9 601042 AD; GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR; GLUT1 deficiency syndrome 2, childhood onset 612126 AD; Stomatin-deficient cryohydrocytosis with neurologic defects 608885 AD; {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847

4 Apr 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC2A1 were set to 22282645; 20574033; 21832227

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SLC2A1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SLC2A1 was created by Sarah Leigh