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
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Rare anaemia
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Hereditary ataxia with onset in adulthood
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Structural eye disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
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