This Panel is marked as Retired
Familial Genetic Generalised Epilepsies
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Epilepsy,idiopathicgeneralized,suscpetibilityto,12}
- 614847
- 606777
- 612126
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Intellectual disability
- COVID-19 research
- Adult onset neurodegenerative disorder
- Structural eye disease
- Likely inborn error of metabolism
- 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
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Early onset or syndromic epilepsy
- Rare anaemia
- Childhood onset hereditary spastic paraplegia
- Fetal anomalies
History Filter Activity
24 Aug 2016, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC2A1 were set to 22282645; 20574033
24 Aug 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC2A1 were set to {Epilepsy,idiopathicgeneralized,suscpetibilityto,12};614847; 606777; 612126
10 Jun 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
8 May 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
8 May 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SLC2A1 was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen