PKD2 - Gene browser

PKD2

polycystin 2, transient receptor potential cation channel

HCNC Approved Symbol: PKD2 (HGNC:9009)
Genomic Coordinates: 4:88,007,635 - 88,077,777 (4q22.1)
Synonyms: PKD4, PC2, Pc-2, TRPP2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

19Patients

In total, 19 patients were diagnosed with a variant in the PKD2 gene.

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

019
Patient count

Polycystic kidney dysplasia: 4 (21.1%)
Patient Count: 4 (21.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (21.1%)
Renal cyst: 3 (15.8%)
Patient Count: 3 (15.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.8%)
Brain aneurysm: 2 (10.5%)
Patient Count: 2 (10.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.5%)
Proteinuria: 2 (10.5%)
Patient Count: 2 (10.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.5%)
Enlarged polycystic kidneys: 2 (10.5%)
Patient Count: 2 (10.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.5%)