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PRF1

Synonyms
HPLH2, P1, PFP
External resources
Summary
This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
17
Likely pathogenic
15
VUS
1,652
Likely benign
762
Benign
311

Patient phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on PRF1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.5%
Abnormality of the cardiovascular system
32.3%
Abnormality of the musculoskeletal system
29%
Abnormality of the digestive system
19.4%
Abnormality of head or neck
16.1%
Abnormality of the ear
16.1%
Abnormality of blood and blood-forming tissues
12.9%
Abnormality of limbs
12.9%
Abnormality of the eye
9.7%
Abnormality of the genitourinary system
9.7%
Abnormality of the immune system
9.7%
Abnormality of the integument
9.7%
Growth abnormality
9.7%
Abnormality of the endocrine system
3.2%
Abnormality of the respiratory system
3.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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