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PIGN

Synonyms
MCAHS, MCAHS1, MCD4, MDC4, PIG-N
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 expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported.

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
36
Likely pathogenic
1
VUS
4,421
Likely benign
11,972
Benign
1,156

Patient phenotypes

Proportions of phenotypes among 34 patients carrying pathogenic or likely pathogenic variants on PIGN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
29.4%
Abnormality of the nervous system
29.4%
Abnormality of limbs
20.6%
Abnormality of the integument
17.6%
Abnormality of head or neck
14.7%
Abnormality of the genitourinary system
14.7%
Abnormality of the immune system
14.7%
Abnormality of the musculoskeletal system
14.7%
Growth abnormality
14.7%
Abnormality of the cardiovascular system
11.8%
Abnormality of the ear
11.8%
Abnormality of the digestive system
8.8%
Abnormal cellular phenotype
2.9%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of the breast
2.9%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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