Skeletal Muscle Channelopathies
Gene: SLC2A1There 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
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
Gene: slc2a1 has been classified as Green List (High Evidence).
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