Dystonia - childhood onset
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- EPILEPSY, IDIOPATHIC GENERALIZED
- dystonia 9
- GLUT1 deficiency syndrome 2
- GLUT1 deficiency syndrome 2, childhood onset
- Dystonia
- GLUT1 deficiency syndrome 1, infantile onset, severe
- GLUT1 deficiency syndrome 1, 606777
- paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
- Tags
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rare anaemia
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Structural eye disease
- Fetal anomalies
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: SLC2A1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SLC2A1 was added gene: SLC2A1 was added to Dystonia - childhood 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 18451999; 20301334; 19630075; 18577546 Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 2, childhood onset; Dystonia; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia