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| Skeletal Muscle Channelopathies v1.37 | SLC2A1 | Eleanor Williams commented on gene: SLC2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v1.21 | SLC2A1 | Louise Daugherty Classified gene: SLC2A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v1.21 | SLC2A1 | Louise Daugherty Gene: slc2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v1.20 | SLC2A1 |
Louise Daugherty 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 Added comment: 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 |
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