KCNMA1

potassium calcium-activated channel subfamily M alpha 1
OMIM: 600150
PanelMode of inheritanceDetails
3 panels
R-numbers: R57
Signed-off version 1.137
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebellar atrophy, developmental delay, and seizures, OMIM:617643, Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551, Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446, Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276, Liang-Wang syndrome, OMIM:618729, Liang-Wang syndrome, MONDO:0032886
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Cerebellar atrophy, developmental delay, and seizures, 617643, Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446
R-numbers: R66
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446