Hereditary ataxia
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: Ataxia reported as a phenotypic feature in GLUT1 deficiency syndrome 1, infantile onset, severe 606777 which can be either mono or biallelicCreated: 12 Jan 2017, 3:45 p.m.
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from OMIM and expert reviewerCreated: 4 Feb 2016, 5:13 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Loads of evidence. Positives in our cohort. Mode of inheritance/pathogenicity: AD LoF/Haploinsufficiency (rarely AR)Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Dystonia 9, 601042
- GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
- GLUT1 deficiency syndrome 2, childhood onset, 612126
- Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- Complete
- 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
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Paroxysmal central nervous system disorders
- Structural eye disease
- Fetal anomalies
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (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 Hereditary ataxiapanel. Sources: UKGTN