GENE REFERENCE / HGNC:8967

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

protein-coding gene18q21.33Gene information

What does this gene do?

The PIGN gene provides instructions for making an enzyme called GPI ethanolamine phosphate transferase 1. This enzyme takes part in a series of steps that produce a molecule called a glycophosphatidylinositol (GPI) anchor. A GPI anchor attaches to many different proteins inside the cell, which are known as GPI-anchored proteins. After a GPI anchor binds to a protein, the GPI anchor attaches itself to the outer surface of the cell membrane, ensuring that the GPI-anchored protein is available when it is needed. A GPI anchor is made up of many different pieces and is assembled in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport.

GPI-anchored proteins have a variety of roles, which include helping cells attach to one another (cell adhesion), relaying signals into the cells (cell signaling), and protecting cells from foreign invaders (cellular immunity).

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-03-26. Source review: 2025-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
multiple congenital anomalies-hypotonia-seizures syndrome 1MONDO:0013563 · Evaluated 2022-04-28	Autosomal recessive	DefinitiveIntellectual Disability and Autism Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,530
Submissions for variants in or overlapping this gene: 2,386
Submissions explicitly reporting this gene: 2,260
Alleles reported pathogenic / likely pathogenic: 215
VariationIDs with uncertain significance: 463
VariationIDs with conflicting classifications: 34

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about PIGN?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 215 alleles in PIGN reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in PIGN.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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