Dystonia, chorea or related movement disorder, childhood onset
Gene: SLC2A1

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

1 review

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

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

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

OMIM

138140

Clinvar variants

Variants in SLC2A1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to SLC2A1. Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes GLUT1 deficiency syndrome 2, childhood onset; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 2 for gene: SLC2A1 Publications for gene SLC2A1 were changed from to 19630075; 20301334; 18451999; 18577546