PDE6B - Gene browser

PDE6B

phosphodiesterase 6B

HCNC Approved Symbol: PDE6B (HGNC:8786)
Genomic Coordinates: 4:625,573 - 670,782 (4p16.3)
Synonyms: CSNB3, rd1, RP40, CSNBAD2, PDEB
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

64Patients

In total, 64 patients were diagnosed with a variant in the PDE6B gene.

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

064
Patient count

Retinitis pigmentosa: 35 (54.7%)
Patient Count: 35 (54.7%)
% of total patients presenting each phenotype is shown in parentheses.
35 (54.7%)
Night blindness: 26 (40.6%)
Patient Count: 26 (40.6%)
% of total patients presenting each phenotype is shown in parentheses.
26 (40.6%)
Decreased visual acuity: 19 (29.7%)
Patient Count: 19 (29.7%)
% of total patients presenting each phenotype is shown in parentheses.
19 (29.7%)
Nyctalopia: 7 (10.9%)
Patient Count: 7 (10.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (10.9%)
Rod-cone dystrophy: 7 (10.9%)
Patient Count: 7 (10.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (10.9%)