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| Skeletal Muscle Channelopathies v0.24 | KCNJ2 | Zornitza Stark Marked gene: KCNJ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.24 | KCNJ2 | Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.24 | KCNJ2 | Zornitza Stark Phenotypes for gene: KCNJ2 were changed from Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; Andersen syndrome, MIM# 170390; Episodic weakness; Andersen syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.23 | KCNJ2 | Zornitza Stark Publications for gene: KCNJ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.22 | KCNJ2 | Zornitza Stark reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11371347, 12796536; Phenotypes: Andersen syndrome, MIM# 170390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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| Skeletal Muscle Channelopathies v0.0 | KCNJ2 |
Bryony Thompson gene: KCNJ2 was added gene: KCNJ2 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ2 were set to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome |
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