PCARE - Gene browser

PCARE

photoreceptor cilium actin regulator

HCNC Approved Symbol: PCARE (HGNC:34383)
Genomic Coordinates: 2:29,061,695 - 29,074,523 (2p23.2)
Synonyms: FLJ34931, RP54, C2orf71
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

22Patients

In total, 22 patients were diagnosed with a variant in the PCARE gene.

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

022
Patient count

Retinitis pigmentosa: 7 (31.8%)
Patient Count: 7 (31.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (31.8%)
Cone-rod dystrophy: 6 (27.3%)
Patient Count: 6 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (27.3%)
Visual impairment: 5 (22.7%)
Patient Count: 5 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (22.7%)
Decreased visual acuity: 4 (18.2%)
Patient Count: 4 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (18.2%)
Night blindness: 4 (18.2%)
Patient Count: 4 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (18.2%)