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PIGS

Synonyms
DEE95, GPIBD18
External resources
Summary
This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins.

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
6
Likely pathogenic
0
VUS
2,734
Likely benign
1,854
Benign
1,287

Patient phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on PIGS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
66.7%
Abnormality of the nervous system
50%
Abnormality of the eye
33.3%
Growth abnormality
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of head or neck
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the immune system
16.7%
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 ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal 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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