Skeletal muscle channelopathy
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 3:16 p.m. | Last Modified: 1 Feb 2023, 3:16 p.m.
Panel Version: 2.4
Eleanor Williams (Genomics England Curator)
Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. Variants seem to result in a brain channelopathy rather than a skeletal muscle oneCreated: 9 Jun 2021, 3:22 p.m. | Last Modified: 20 Jul 2021, 2:18 p.m.
Panel Version: 1.31
Variants in this gene are associated with several disorders in OMIM but most notably for this panel
Dystonia 9 #601042 (AD)
GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR 3
GLUT1 deficiency syndrome 2, childhood onset 612126 AD
SLC2A1 encodes a facilitative glucose transporter, which is an important energy carrier of the brain, present at the blood-brain barrier.Created: 9 Jun 2021, 3:19 p.m. | Last Modified: 9 Jun 2021, 3:19 p.m.
Panel Version: 1.29
Zornitza Stark (Australian Genomics)
This is a brain channelopathy.Created: 20 Aug 2020, 8:54 a.m. | Last Modified: 20 Aug 2020, 8:54 a.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 9, MIM# 601042
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:57 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 2, childhood onset, 612126; Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).
Publications
- Gardiner et al 2015 Brain 138, 3567-3580 PMID: 26598494. Wang et al 2000 Hum Mut 16, 224-31 PMID: 10980529. Schneider et al 2009 Mov Disord 24, 1684-8 PMID: 19630075. Suls et al 2009 Ann Neurol 66, 415-9
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 Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847
- GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777
- GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
- OMIM
- 138140
- Clinvar variants
- Variants in SLC2A1
- Penetrance
- None
- 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
- 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
- Brain channelopathy
- 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
Removed Tag, Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating was removed from gene: SLC2A1. Tag Q2_21_phenotype was removed from gene: SLC2A1. Tag Q2_21_expert_review was removed from gene: SLC2A1.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Red was added to SLC2A1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SLC2A1. Tag Q2_21_expert_review tag was added to gene: SLC2A1.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: SLC2A1.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: slc2a1 has been classified as Green List (High Evidence).
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating tag was added to gene: SLC2A1. Tag Q2_21_phenotype tag was added to gene: SLC2A1.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: SLC2A1 were changed from Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 to Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene SLC2A1 were changed from to 19630075; 26598494; 10980529
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 for gene: SLC2A1
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to SLC2A1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC2A1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SLC2A1 was added gene: SLC2A1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: SLC2A1 was set to