RPGR - Gene browser

RPGR

retinitis pigmentosa GTPase regulator

HCNC Approved Symbol: RPGR (HGNC:10295)
Genomic Coordinates: 23:38,269,163 - 38,327,509 (Xp11.4)
Synonyms: CORDX1, CRD, RP3, RP15, COD1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

90Patients

In total, 90 patients were diagnosed with a variant in the RPGR gene.

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

090
Patient count

Night blindness: 43 (47.8%)
Patient Count: 43 (47.8%)
% of total patients presenting each phenotype is shown in parentheses.
43 (47.8%)
Decreased visual acuity: 41 (45.6%)
Patient Count: 41 (45.6%)
% of total patients presenting each phenotype is shown in parentheses.
41 (45.6%)
Retinitis pigmentosa: 34 (37.8%)
Patient Count: 34 (37.8%)
% of total patients presenting each phenotype is shown in parentheses.
34 (37.8%)
Retinal dystrophy: 7 (7.8%)
Patient Count: 7 (7.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (7.8%)
Retinal disease: 6 (6.7%)
Patient Count: 6 (6.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (6.7%)