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| Skeletal Muscle Channelopathies v0.24 | KCNJ18 | Zornitza Stark Marked gene: KCNJ18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.24 | KCNJ18 | Zornitza Stark Gene: kcnj18 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.16 | KCNJ18 |
Bryony Thompson gene: KCNJ18 was added gene: KCNJ18 was added to Skeletal Muscle Channelopathies. Sources: Expert list Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ18 were set to 25882930; 27178871; 20074522; 27008341 Phenotypes for gene: KCNJ18 were set to Hypokalemic periodic paralysis; {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239 Review for gene: KCNJ18 was set to RED Added comment: Single case reported with hypokalemic periodic paralysis without hyperthyroidism with G169R. Unsure, if this variant is specific to KCNJ18 due to high homology with KCNJ12 in this region. Sources: Expert list |
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