POLE - Gene browser

POLE

DNA polymerase epsilon, catalytic subunit

HCNC Approved Symbol: POLE (HGNC:9177)
Genomic Coordinates: 12:132,623,762 - 132,687,342 (12q24.33)
Synonyms: POLE1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the POLE gene.

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

04
Patient count

Frequent infections: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Immunodeficiency: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Infective endocarditis: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Knee pain: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Osteoid osteoma: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)