Epileptic encephalopathy
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 9
Publications
- Weber et al (2011) Neurology 77: 959-964
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 9
Publications
- Weber et al (2011) Neurology 77: 959-964
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 9
Publications
- Weber et al (2011) Neurology 77: 959-964
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 9
Publications
- Weber et al (2011) Neurology 77: 959-964
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed with reviewer that both is relevant (OMIM).Created: 29 Jan 2016, 5:23 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Dystonia 9
- Tags
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- Complete
- Publications
-
- Weber et al (2011) Neurology 77: 959-964
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC2A1 were set to Dystonia 9
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC2A1 were set to Weber et al (2011) Neurology 77: 959-964
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert