Skeletal Muscle Channelopathies
Gene: KCNE3
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 listCreated: 30 Nov 2020, 4:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Periodic paralysis
Publications
Disputed by ClinGenCreated: 1 Jun 2020, 4:08 a.m. | Last Modified: 1 Jun 2020, 4:08 a.m.
Panel Version: 0.2932
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brugada syndrome
Publications
Gene: kcne3 has been classified as Red List (Low Evidence).
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