Skeletal Muscle Channelopathies

Gene: SLC2A1

Green List (high evidence)

SLC2A1 (solute carrier family 2 member 1)
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 26 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

added from review of the GMS myotonia congenita panel. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Sources: Expert list
Created: 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

History Filter Activity

8 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: slc2a1 has been classified as Green List (High Evidence).

8 Nov 2019, Gel status: 1

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