PIEZO2 - Gene browser

PIEZO2

piezo type mechanosensitive ion channel component 2

HCNC Approved Symbol: PIEZO2 (HGNC:26270)
Genomic Coordinates: 18:10,670,247 - 11,149,569 (18p11.22-p11.21)
Synonyms: FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907, FAM38B2, C18orf30, C18orf58, FAM38B
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the PIEZO2 gene.

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

014
Patient count

Hypotonia: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Developmental delay: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Distal muscular weakness: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Myopathy: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Tachycardia: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)