PRPH2 - Gene browser

PRPH2

peripherin 2

HCNC Approved Symbol: PRPH2 (HGNC:9942)
Genomic Coordinates: 6:42,696,598 - 42,722,597 (6p21.1)
Synonyms: TSPAN22, rd2, CACD2, RP7, RDS
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

42Patients

In total, 42 patients were diagnosed with a variant in the PRPH2 gene.

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

042
Patient count

Retinitis pigmentosa: 17 (40.5%)
Patient Count: 17 (40.5%)
% of total patients presenting each phenotype is shown in parentheses.
17 (40.5%)
Night blindness: 9 (21.4%)
Patient Count: 9 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
9 (21.4%)
Decreased visual acuity: 6 (14.3%)
Patient Count: 6 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (14.3%)
Nyctalopia: 5 (11.9%)
Patient Count: 5 (11.9%)
% of total patients presenting each phenotype is shown in parentheses.
5 (11.9%)
Retinal disease: 3 (7.1%)
Patient Count: 3 (7.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (7.1%)