Early onset dystonia

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 25 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from monoallelic to "both" as OMIM includes a report of a compound heterozygote and homozygous patient with GLUT1 deficiency syndrome 1.
Created: 23 Aug 2016, 3:18 p.m.
Comment on list classification: Is a confirmed DD gene for GLUT1 deficiency syndrome 1 and 2. Multiple cases/families reported on OMIM for GLUT1 deficiency syndrome 1, infantile onset, severe, GLUT1 deficiency syndrome 2, childhood onset and Dystonia 9.
Created: 23 Aug 2016, 3:15 p.m.
Is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 8:31 a.m.
This is also known as GLUT-1.
Created: 9 Jun 2016, 10:49 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dystonia
  • GLUT1 deficiency syndrome 1, 606777
  • GLUT1 deficiency syndrome 2, childhood onset
  • GLUT1 deficiency syndrome 1, infantile onset, severe
  • GLUT1 deficiency syndrome 1
  • GLUT1 deficiency syndrome 2
OMIM
138140
Clinvar variants
Variants in SLC2A1
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1155/
Panels with this gene

History Filter Activity

17 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

23 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC2A1 were set to Dystonia; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for SLC2A1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

SLC2A1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

SLC2A1 was added to Early onset dystoniapanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SLC2A1 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SLC2A1 was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services