RPE65 - Gene browser

RPE65

retinoid isomerohydrolase RPE65

HCNC Approved Symbol: RPE65 (HGNC:10294)
Genomic Coordinates: 1:68,428,822 - 68,449,954 (1p31.3)
Synonyms: LCA2, rd12, BCO3, RP20
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

45Patients

In total, 45 patients were diagnosed with a variant in the RPE65 gene.

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

045
Patient count

Retinitis pigmentosa: 26 (57.8%)
Patient Count: 26 (57.8%)
% of total patients presenting each phenotype is shown in parentheses.
26 (57.8%)
Retinal dystrophy: 12 (26.7%)
Patient Count: 12 (26.7%)
% of total patients presenting each phenotype is shown in parentheses.
12 (26.7%)
Visual impairment: 5 (11.1%)
Patient Count: 5 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
5 (11.1%)
Retinal disease: 5 (11.1%)
Patient Count: 5 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
5 (11.1%)
Nyctalopia: 4 (8.9%)
Patient Count: 4 (8.9%)
% of total patients presenting each phenotype is shown in parentheses.
4 (8.9%)