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PIGO

Synonyms
HPMRS2
External resources
Summary
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct 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
268
Likely pathogenic
2
VUS
2,101
Likely benign
730
Benign
502

Patient phenotypes

Proportions of phenotypes among 270 patients carrying pathogenic or likely pathogenic variants on PIGO gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.3%
Abnormality of the musculoskeletal system
27.8%
Abnormality of head or neck
23.3%
Abnormality of the eye
22.2%
Abnormality of the cardiovascular system
19.3%
Growth abnormality
14.8%
Abnormality of the integument
13%
Abnormality of the ear
12.6%
Abnormality of the genitourinary system
12.2%
Abnormality of limbs
11.1%
Abnormality of the digestive system
8.9%
Abnormality of the immune system
6.3%
Abnormality of the respiratory system
6.3%
Abnormality of the endocrine system
5.2%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of prenatal development or birth
3%
Neoplasm
2.6%
Abnormality of the voice
1.5%
Abnormal cellular phenotype
0.7%
Constitutional symptom
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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