Home > Gene Browser > PIGO
PIGO
- Synonyms
- HPMRS2
- External resources
- NCBI84720
- OMIM614730
- EnsemblENSG00000165282
- HGNCHGNC:23215
- 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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