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PFN1

Synonyms
ALS18
External resources
Summary
This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
3
Likely pathogenic
0
VUS
1,487
Likely benign
3,581
Benign
734

Patient phenotypes

Proportions of phenotypes among 3 patients carring pathogenic or likely pathogenic variants on PFN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
66.7%
Abnormality of the musculoskeletal system
66.7%
Abnormality of the nervous system
66.7%
Abnormality of head or neck
33.3%
Abnormality of the ear
33.3%
Abnormality of the immune system
33.3%
Abnormality of the integument
33.3%
Growth abnormality
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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