Skeletal Muscle Channelopathies
Gene: KCNA1
Both LoF and DN reported. The one truncating (not NMD) reported has been shown to cause DN, whereas missense have been associated with both LoF and DN (PMID: 11026449; OMIM).Created: 4 Feb 2020, 9:10 p.m. | Last Modified: 4 Feb 2020, 9:10 p.m.
Panel Version: 0.46
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia/myokymia syndrome 160120 AD
Publications
Mode of pathogenicity
Other
Gene: kcna1 has been classified as Green List (High Evidence).
Publications for gene: KCNA1 were set to
Mode of pathogenicity for gene: KCNA1 was changed from to Other
Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: KCNA1 was added gene: KCNA1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNA1 were set to EA1; Episodic ataxia/myokymia syndrome, 160120; Myokymia; Episodic Ataxia; Episodic Ataxia, Type 1