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PHACTR4

Synonyms
PPP1R124
External resources
Summary
This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene.

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
90
Likely pathogenic
0
VUS
3,180
Likely benign
2,248
Benign
0

Patient phenotypes

Proportions of phenotypes among 73 patients carring pathogenic or likely pathogenic variants on PHACTR4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.7%
Abnormality of the musculoskeletal system
31.5%
Abnormality of head or neck
28.8%
Abnormality of the ear
20.5%
Abnormality of the eye
20.5%
Abnormality of the integument
17.8%
Abnormality of the cardiovascular system
16.4%
Growth abnormality
13.7%
Abnormality of the digestive system
12.3%
Abnormality of limbs
11%
Abnormality of blood and blood-forming tissues
6.8%
Abnormality of the genitourinary system
6.8%
Abnormality of the endocrine system
4.1%
Abnormality of the immune system
4.1%
Abnormality of the respiratory system
4.1%
Constitutional symptom
2.7%
Neoplasm
2.7%
Abnormality of the voice
1.4%
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%

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