PDE6C - Gene browser

PDE6C

phosphodiesterase 6C

HCNC Approved Symbol: PDE6C (HGNC:8787)
Genomic Coordinates: 10:93,612,537 - 93,666,010 (10q23.33)
Synonyms: PDEA2, ACHM5, COD4
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

22Patients

In total, 22 patients were diagnosed with a variant in the PDE6C gene.

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

022
Patient count

Achromatopsia: 9 (40.9%)
Patient Count: 9 (40.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (40.9%)
Decreased visual acuity: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Night blindness: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Cone dystrophy: 3 (13.6%)
Patient Count: 3 (13.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (13.6%)
Nystagmus: 3 (13.6%)
Patient Count: 3 (13.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (13.6%)