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PIGT

Synonyms
CGI-06, MCAHS3, NDAP, PNH2
External resources
Summary
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is 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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
62
Likely pathogenic
0
VUS
1,545
Likely benign
524
Benign
521

Patient phenotypes

Proportions of phenotypes among 58 patients carrying pathogenic or likely pathogenic variants on PIGT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.9%
Abnormality of the cardiovascular system
36.2%
Abnormality of the musculoskeletal system
22.4%
Abnormality of head or neck
19%
Abnormality of the ear
13.8%
Abnormality of the genitourinary system
13.8%
Abnormality of the eye
12.1%
Growth abnormality
12.1%
Abnormality of limbs
8.6%
Abnormality of the endocrine system
8.6%
Abnormality of the integument
6.9%
Abnormality of the digestive system
3.4%
Abnormality of the respiratory system
3.4%
Neoplasm
3.4%
Abnormality of blood and blood-forming tissues
1.7%
Abnormality of prenatal development or birth
1.7%
Abnormality of the immune system
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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