Genes in panel

Neurodegenerative disorders - adult onset

Gene: SLC2A1

Red List (low evidence)

SLC2A1 (solute carrier family 2 member 1)
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 23 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia: childhood onset - red. GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. GLUT deficiency syndrome-2 (612126) represents the less severe end of the phenotypic spectrum and is associated with paroxysmal exercise-induced dystonia with or without seizures. Developmental/metabolic disorder with childhood onset - red
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; spastic paraplegia

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Not associated with neurodegneration
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • GLUT1 DEFICIENCY SYNDROME 1
  • dystonia 9
  • GLUT1 deficiency syndrome 1, infantile onset, severe
  • EPILEPSY, IDIOPATHIC GENERALIZED
  • Dystonia
  • GLUT1 deficiency syndrome 2, childhood onset
  • GLUT1 deficiency syndrome 1, 606777
  • paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
  • GLUT1 deficiency syndrome 1
  • GLUT1 deficiency syndrome 2
  • spastic paraplegia
OMIM
138140
Clinvar variants
Variants in SLC2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to SLC2A1. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SLC2A1.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SLC2A1.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC2A1.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SLC2A1.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

8 Jan 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546; 11136715; 21832227; 18606970

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SLC2A1 were changed from GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 to GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; spastic paraplegia

18 Dec 2018, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 for gene: SLC2A1

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia for gene: SLC2A1

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications

Rebecca Foulger (Genomics England curator)

gene: SLC2A1 was added gene: SLC2A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546