Ataxia and cerebellar anomalies - 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
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dystonia 9, 601042
- GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
- GLUT1 deficiency syndrome 2, childhood onset, 612126
- Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- Cytopenias and congenital anaemias
- Bilateral congenital or childhood onset cataracts
- COVID-19 research
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Skeletal muscle channelopathy
- Likely inborn error of metabolism
- Rare anaemia
- Hereditary spastic paraplegia, childhood onset
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Structural eye disease
- Neurodegenerative disorders, adult onset
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Hereditary ataxia, adult onset
- Paroxysmal central nervous system disorders
History Filter Activity
9 Jan 2019, Gel status: 4
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.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SLC2A1 was added gene: SLC2A1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal