PRF1 - Gene browser

PRF1

perforin 1

HCNC Approved Symbol: PRF1 (HGNC:9360)
Genomic Coordinates: 10:70,597,348 - 70,602,741 (10q22.1)
Synonyms: PFP, P1, HPLH2
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the PRF1 gene.

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

013
Patient count

Hepatosplenomegaly: 6 (46.2%)
Patient Count: 6 (46.2%)
% of total patients presenting each phenotype is shown in parentheses.
6 (46.2%)
Pancytopenia: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Anemia: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Hemophagocytosis: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Neutropenia: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)