Skeletal Muscle Channelopathies
Gene: SLC2A1EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 24 panels
2 reviews
Eleanor Williams (Genomics England Curator)
There has been discussion on the GMS Skeletal muscle channelopathy panel (panel 542) whether this gene should be rated green or red as it variants are associated with a brain channelopathy rather than a skeletal muscle one, but leaving the gene as green on this panel for consistency with the GMS for now.Created: 20 Jul 2021, 2:20 p.m. | Last Modified: 20 Jul 2021, 2:20 p.m.
Panel Version: 1.37
Louise Daugherty (Genomics England Curator)
added from review of the GMS myotonia congenita panel. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Sources: Expert listCreated: 8 Nov 2019, 3:09 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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; myotonia; dystonia
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- 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
- myotonia
- dystonia
- 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
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: slc2a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: SLC2A1 was added gene: SLC2A1 was added to Skeletal Muscle Channelopathies. Sources: Expert list Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 19630075; 26598494; 10980529 Phenotypes for gene: SLC2A1 were set to 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; myotonia; dystonia Review for gene: SLC2A1 was set to GREEN