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PIGW

Synonyms
Gwt1, HPMRS5
External resources
Summary
The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5).

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
34
Likely pathogenic
0
VUS
872
Likely benign
550
Benign
0

Patient phenotypes

Proportions of phenotypes among 34 patients carrying pathogenic or likely pathogenic variants on PIGW gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
26.5%
Abnormality of the eye
26.5%
Abnormality of the nervous system
26.5%
Abnormality of the musculoskeletal system
20.6%
Abnormality of head or neck
14.7%
Abnormality of the genitourinary system
11.8%
Abnormality of the digestive system
8.8%
Abnormality of the ear
8.8%
Abnormality of the endocrine system
8.8%
Abnormality of the integument
8.8%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of the immune system
5.9%
Growth abnormality
5.9%
Abnormality of the respiratory system
2.9%
Abnormality of the voice
2.9%
Constitutional symptom
2.9%
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 thoracic cavity
0%
Neoplasm
0%

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