PDE6A - Gene browser

PDE6A

phosphodiesterase 6A

HCNC Approved Symbol: PDE6A (HGNC:8785)
Genomic Coordinates: 5:149,857,953 - 149,944,793 (5q32)
Synonyms: RP43, PDEA
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

23Patients

In total, 23 patients were diagnosed with a variant in the PDE6A gene.

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

023
Patient count

Retinitis pigmentosa: 10 (43.5%)
Patient Count: 10 (43.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (43.5%)
Decreased visual acuity: 9 (39.1%)
Patient Count: 9 (39.1%)
% of total patients presenting each phenotype is shown in parentheses.
9 (39.1%)
Night blindness: 9 (39.1%)
Patient Count: 9 (39.1%)
% of total patients presenting each phenotype is shown in parentheses.
9 (39.1%)
Visual field restriction: 4 (17.4%)
Patient Count: 4 (17.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (17.4%)
Color vision disturbed: 2 (8.7%)
Patient Count: 2 (8.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (8.7%)