Brain channelopathy

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 26 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: added the 'treatable' tag. changed complete penetrance to incomplete
Created: 18 Jan 2017, 3:25 p.m.

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; DYSTONIA 9; Stomatin-deficient cryohydrocytosis with neurologic defects; epilepsy

Publications

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: OMIM and our gene panels.
Created: 10 Jun 2016, 3:43 p.m.
Comment on list classification: Promoted from red to green as this gene 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, 3:19 p.m.

History Filter Activity

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

23 Jan 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

18 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

18 Jan 2017, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for SLC2A1 were set to paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 DEFICIENCY SYNDROME 1; dystonia 9

18 Jan 2017, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for SLC2A1 were set to paroxysmal exertion-induced dyskinesia; GLUT1 DEFICIENCY SYNDROME 2; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; GLUT1 DEFICIENCY SYNDROME 1; dystonia 9

18 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for SLC2A1 were set to 19630075; 18451999; 18577546

18 Jan 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

10 Jun 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

10 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME 2; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; GLUT1 DEFICIENCY SYNDROME 1; paroxysmal exertion-induced dyskinesia

10 Jun 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).

5 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC2A1 was added to Brain channelopathypanel. Sources: UKGTN