POLG - Gene browser

POLG

DNA polymerase gamma, catalytic subunit

HCNC Approved Symbol: POLG (HGNC:9179)
Genomic Coordinates: 15:89,316,320 - 89,334,824 (15q26.1)
Synonyms: POLG1, POLGA
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

39Patients

In total, 39 patients were diagnosed with a variant in the POLG gene.

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

039
Patient count

Seizures: 8 (20.5%)
Patient Count: 8 (20.5%)
% of total patients presenting each phenotype is shown in parentheses.
8 (20.5%)
Hypotonia: 7 (17.9%)
Patient Count: 7 (17.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (17.9%)
Epilepsy: 4 (10.3%)
Patient Count: 4 (10.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.3%)
Global developmental delay: 4 (10.3%)
Patient Count: 4 (10.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.3%)
Autism spectrum disorder: 4 (10.3%)
Patient Count: 4 (10.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.3%)