Activity
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| Skeletal Muscle Channelopathies v0.15 | KCNE3 | Bryony Thompson Marked gene: KCNE3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.15 | KCNE3 | Bryony Thompson Gene: kcne3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Muscle Channelopathies v0.15 | KCNE3 |
Bryony Thompson gene: KCNE3 was added gene: KCNE3 was added to Skeletal Muscle Channelopathies. Sources: Expert list Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNE3 were set to 14504341; 11207363; 16449802; 15037716; 20051516; 28356343 Phenotypes for gene: KCNE3 were set to Periodic paralysis Review for gene: KCNE3 was set to RED Added comment: The originally reported missense (R38H) that segregated with periodic paralysis in 2 families, is too common in gnomAD v2.1 for a variant associated with dominant disease (AF 0.003, 7 homozygotes). Kcne3(-/-) mice do not display periodic paralysis or other obvious skeletal muscle abnormalities. Sources: Expert list |
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