PIEZO1 - Gene browser

PIEZO1

piezo type mechanosensitive ion channel component 1 (Er blood group)

HCNC Approved Symbol: PIEZO1 (HGNC:28993)
Genomic Coordinates: 16:88,715,338 - 88,785,220 (16q24.3)
Synonyms: KIAA0233, FAM38A
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the PIEZO1 gene.

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

06
Patient count

Chylothorax: 4 (66.7%)
Patient Count: 4 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (66.7%)
Lymphedema: 4 (66.7%)
Patient Count: 4 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (66.7%)
Dysmorphic facial features: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Recurrent: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Edema of the lower limbs: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)