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PHACTR1

Synonyms
DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2
External resources
Summary
The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants.

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
16
Likely pathogenic
0
VUS
2,373
Likely benign
1,511
Benign
1,808

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on PHACTR1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Growth abnormality
33.3%
Abnormality of head or neck
26.7%
Abnormality of the musculoskeletal system
26.7%
Abnormality of the integument
20%
Abnormality of the ear
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormal cellular phenotype
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune 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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