DEPDC5 - Gene browser

DEPDC5

DEP domain containing 5, GATOR1 subcomplex subunit

HCNC Approved Symbol: DEPDC5 (HGNC:18423)
Genomic Coordinates: 22:31,753,968 - 31,908,033 (22q12.2-q12.3)
Synonyms: KIAA0645, DEP.5
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the DEPDC5 gene.

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

09
Patient count

Epilepsy: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Seizures: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Abnormal temper tantrums: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Cataract: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Fair skin: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)