Skeletal Muscle Channelopathies

Gene: KCNJ5

Red List (low evidence)

Only a single Japanese case with periodic muscle paralysis with no dysmorphic features, reported with the missense variant p.Gly387Arg. In vitro functional expression studies in Xenopus oocytes showed that coexpression of KCNJ2 with mutant KCNJ5 significantly reduced the inwardly rectifying potassium current compared to that observed with coexpression of KCNJ2 with wildtype KCNJ5. However, the East Asian allele frequency for this variant in gnomAD v2.1 is 0.00251 (50/19,924 alleles). Which is higher than would be expected for a dominantly inherited disorder.
Sources: Expert list

Created: 29 Jun 2020, 2:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Andersen-Tawil Syndrome; periodic muscle paralysis

Publications

• 24574546