KCNMA1 - Gene browser

KCNMA1

potassium calcium-activated channel subfamily M alpha 1

HCNC Approved Symbol: KCNMA1 (HGNC:6284)
Genomic Coordinates: 10:76,869,602 - 77,637,808 (10q22.3)
Synonyms: KCa1.1, mSLO1, SLO
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the KCNMA1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

010
Patient count

Intellectual disability: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Autism: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Delayed speech and language development: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Cerebellar atrophy: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Dysarthria: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)