Early onset dystonia
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from monoallelic to "both" as OMIM includes a report of a compound heterozygote and homozygous patient with GLUT1 deficiency syndrome 1.Created: 23 Aug 2016, 3:18 p.m.
Comment on list classification: Is a confirmed DD gene for GLUT1 deficiency syndrome 1 and 2. Multiple cases/families reported on OMIM for GLUT1 deficiency syndrome 1, infantile onset, severe, GLUT1 deficiency syndrome 2, childhood onset and Dystonia 9.Created: 23 Aug 2016, 3:15 p.m.
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, 8:31 a.m.
This is also known as GLUT-1.Created: 9 Jun 2016, 10:49 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Dystonia
- GLUT1 deficiency syndrome 1, 606777
- GLUT1 deficiency syndrome 2, childhood onset
- GLUT1 deficiency syndrome 1, infantile onset, severe
- GLUT1 deficiency syndrome 1
- GLUT1 deficiency syndrome 2
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- Complete
- Publications
-
- http://www.ncbi.nlm.nih.gov/books/NBK1155/
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Rare anaemia
- COVID-19 research
- Skeletal muscle channelopathy
- Adult onset neurodegenerative disorder
- 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
- Early onset or syndromic epilepsy
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC2A1 were set to Dystonia; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 2, childhood onset;GLUT1 deficiency syndrome 1, infantile onset, severe;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for SLC2A1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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
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
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
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
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
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
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
GEL ()SLC2A1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()SLC2A1 was added to Early onset dystoniapanel. Sources: UKGTN
Added New Source
GEL ()SLC2A1 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()SLC2A1 was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services