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PIGQ

Synonyms
DEE77, EIEE77, GPI1, GPIBD19, MCAHS4, c407A10.1
External resources
Summary
This gene is involved in the first step 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 gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found 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
13
Likely pathogenic
0
VUS
18,108
Likely benign
1,658
Benign
268

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on PIGQ gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.8%
Abnormality of the endocrine system
23.1%
Neoplasm
23.1%
Abnormality of blood and blood-forming tissues
15.4%
Abnormality of the eye
15.4%
Growth abnormality
15.4%
Abnormal cellular phenotype
7.7%
Abnormality of head or neck
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the ear
7.7%
Abnormality of the immune system
7.7%
Abnormality of the musculoskeletal system
7.7%
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 genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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