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PIGB

Synonyms
DEE80, EIEE80, GPI-MT-III, PIG-B
External resources
Summary
This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and 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 is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases.

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
15
Likely pathogenic
0
VUS
3,232
Likely benign
2,071
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on PIGB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
53.3%
Abnormality of the nervous system
40%
Abnormality of head or neck
26.7%
Abnormality of limbs
26.7%
Abnormality of the ear
26.7%
Abnormality of the digestive system
20%
Abnormality of the eye
20%
Abnormality of the integument
20%
Growth abnormality
20%
Abnormality of the cardiovascular system
13.3%
Abnormality of the respiratory system
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the immune system
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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