KCNMA1 Chromosome 10
Potassium calcium-activated channel subfamily M alpha 1
Upload your DNA to see your personal genotypes for variants in KCNMA1.
What This Gene Does
This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]
Gene Info
Gene Group
Potassium calcium-activated channels
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000156113
Associated Conditions (14)
Generalized epilepsy-paroxysmal dyskinesia syndrome
KCNMA1-related disorder
Cerebellar atrophy
developmental delay
and seizures
Epilepsy
idiopathic generalized
susceptibility to
16
Liang-Wang syndrome
Inborn genetic diseases
Infantile epileptic dyskinetic encephalopathy
Intellectual disability
Autism spectrum disorder
Key Variants
RS1043608536
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS115273369
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS1350886458
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS139309224
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS142210216
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS143562140
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS143599540
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS144215383
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS1445232499
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS145048715
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS147369374
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
RS147378590
Conflicting classifications of pathogenicity
Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder, Generalized epilepsy-paroxysmal dyskinesia syndrome
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2065361594 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2152944295 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2153773364 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2153792334 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2153875876 | Health Risk | Pathogenic | Liang-Wang syndrome, Liang-Wang syndrome |
| RS2551593769 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS753408207 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS762705295 | Health Risk | Pathogenic | Cerebellar atrophy, developmental delay, and seizures |
| RS886039469 | Health Risk | Pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS150678882 | Health Risk | Pathogenic/Likely pathogenic | KCNMA1-related disorder, Liang-Wang syndrome, Intellectual disability |
| RS1554829003 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Liang-Wang syndrome, Inborn genetic diseases |
| RS2093893902 | Health Risk | Pathogenic/Likely pathogenic | Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |