KCNB1 - Gene browser

KCNB1

potassium voltage-gated channel subfamily B member 1

HCNC Approved Symbol: KCNB1 (HGNC:6231)
Genomic Coordinates: 20:49,363,877 - 49,483,362 (20q13.13)
Synonyms: Kv2.1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the KCNB1 gene.

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

09
Patient count

Global developmental delay: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Epilepsy: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Hypotonia: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Intellectual disability: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Facial dysmorphic features are mild: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)