PLCE1 - Gene browser

PLCE1

phospholipase C epsilon 1

HCNC Approved Symbol: PLCE1 (HGNC:17175)
Genomic Coordinates: 10:93,993,931 - 94,332,823 (10q23.33)
Synonyms: KIAA1516, PLCE, NPHS3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the PLCE1 gene.

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

05
Patient count

Steroid-resistant nephrotic syndrome: 4 (80.0%)
Patient Count: 4 (80.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (80.0%)
End stage renal disease: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Myositis: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Nephrotic syndrome: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Recurrent infections: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)