TBCK - Gene browser

TBCK

TBC1 domain containing kinase

HCNC Approved Symbol: TBCK (HGNC:28261)
Genomic Coordinates: 4:106,041,599 - 106,316,683 (4q24)
Synonyms: MGC16169, HSPC302, Fy-1, FERRY1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the TBCK gene.

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

07
Patient count

Global developmental delay: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Epilepsy: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Seizure: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Developmental delay: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Intractable seizures: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)