PCDH15 - Gene browser

PCDH15

protocadherin related 15

HCNC Approved Symbol: PCDH15 (HGNC:14674)
Genomic Coordinates: 10:53,802,771 - 55,627,942 (10q21.1)
Synonyms: CDHR15, USH1F, DFNB23
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the PCDH15 gene.

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

017
Patient count

Hearing loss: 7 (41.2%)
Patient Count: 7 (41.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (41.2%)
Hearing impairment: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Retinitis pigmentosa: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Retinal dystrophy: 1 (5.9%)
Patient Count: 1 (5.9%)
% of total patients presenting each phenotype is shown in parentheses.
1 (5.9%)
Congenital hearing loss: 1 (5.9%)
Patient Count: 1 (5.9%)
% of total patients presenting each phenotype is shown in parentheses.
1 (5.9%)