Hereditary ataxia with onset in adulthood
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Haploinsufficiency is predominant pathogenic mechanism. Note rare cases of apparent AR inheritance of missense variants reported in the lit (see PMID in publications)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia 9, 601042, GLUT1 deficiency syndrome 1, 606777, GLUT1 deficiency syndrome 2, 612126
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Brain channelopathy v1.46
- Hereditary ataxia v1.148
- Phenotypes
-
- paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
- GLUT1 DEFICIENCY SYNDROME 1
- dystonia 9
- GLUT1 deficiency syndrome 2, 612126
- GLUT1 deficiency syndrome 1, 606777
- Dystonia 9, 601042
- EPILEPSY, IDIOPATHIC GENERALIZED
- Tags
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- 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
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- 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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Dystonia 9, 601042; GLUT1 deficiency syndrome 2, 612126; GLUT1 deficiency syndrome 1, 606777 for gene: SLC2A1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC2A1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to SLC2A1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: SLC2A1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SLC2A1 was added gene: SLC2A1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546 Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1