Brain channelopathy
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
3 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: added the 'treatable' tag. changed complete penetrance to incompleteCreated: 18 Jan 2017, 3:25 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA; DYSTONIA 9; Stomatin-deficient cryohydrocytosis with neurologic defects; epilepsy
Publications
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Source: OMIM and our gene panels.Created: 10 Jun 2016, 3:43 p.m.
Comment on list classification: Promoted from red to green as this gene is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 3:19 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
- EPILEPSY, IDIOPATHIC GENERALIZED
- GLUT1 DEFICIENCY SYNDROME 1
- dystonia 9
- Tags
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Rare anaemia
- Intellectual disability
- COVID-19 research
- Skeletal muscle channelopathy
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Structural eye disease
- Hereditary ataxia
- Brain channelopathy
- Adult onset neurodegenerative disorder
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for SLC2A1 were set to paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 DEFICIENCY SYNDROME 1; dystonia 9
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for SLC2A1 were set to paroxysmal exertion-induced dyskinesia; GLUT1 DEFICIENCY SYNDROME 2; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; GLUT1 DEFICIENCY SYNDROME 1; dystonia 9
Set publications
Arianna Tucci (Genomics England Curator)Publications for SLC2A1 were set to 19630075; 18451999; 18577546
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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 GLUT1 DEFICIENCY SYNDROME 2; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; GLUT1 DEFICIENCY SYNDROME 1; paroxysmal exertion-induced dyskinesia
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SLC2A1 was added to Brain channelopathypanel. Sources: UKGTN