Brain Channelopathies
Gene: KCNMA1

KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000156113
EnsemblGeneIds (GRCh37): ENSG00000156113
OMIM: 600150, Gene2Phenotype
KCNMA1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Potassium channel gene which is associated with several phenotypes, including paroxysmal dyskinesia in at least three unrelated families.
Created: 20 Aug 2020, 8:03 a.m. | Last Modified: 20 Aug 2020, 8:03 a.m.

Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446

Publications

Created: 20 Aug 2020, 8:03 a.m.
Last Modified: 20 Aug 2020, 8:03 a.m.
Panel version: 0.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446

OMIM

600150

Clinvar variants

Variants in KCNMA1

Penetrance

None

Publications

Panels with this gene