PERP

PERP

p53 apoptosis effector related to PMP22

HCNC Approved Symbol: PERP (HGNC:17637)
Genomic Coordinates: 6:138,088,505 - 138,107,419 (6q23.3)
Synonyms: PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PERP gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Lymphadenopathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Onychomycosis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Recurrent skin infections: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30