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| Skeletal Muscle Channelopathies v0.6 | KCNJ5 | Zornitza Stark Marked gene: KCNJ5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.6 | KCNJ5 | Zornitza Stark Gene: kcnj5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.4 | KCNJ5 |
Bryony Thompson gene: KCNJ5 was added gene: KCNJ5 was added to Skeletal Muscle Channelopathies. Sources: Expert list Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ5 were set to 24574546 Phenotypes for gene: KCNJ5 were set to Andersen-Tawil Syndrome; periodic muscle paralysis Review for gene: KCNJ5 was set to RED Added comment: 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 |
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