This Panel is marked as Retired
Epilepsy Plus
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
- UKGTN
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Epilepsy,idiopathicgeneralized,suscpetibilityto,12}
- 614847
- 606777
- 612126
- Dystonia 9
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Rare anaemia
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Childhood onset hereditary spastic paraplegia
History Filter Activity
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A1 was added to Epilepsy Pluspanel. Source: UKGTN SLC2A1 was added to Epilepsy Pluspanel. Source: Expert
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLC2A1 was created by ellenmcdonagh
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A1 was added to Epilepsy Pluspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green