PIGA

Curated reports relevant to this gene

• GPI Anchor Biosynthesis Defects

  • PIGA-Related Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome (MCAHS2)X-linked recessive

    An X-linked GPI anchor defect caused by inherited or new germline variants in PIGA, mainly affecting boys, with early-onset epilepsy, low muscle tone and developmental delay.

    • 3 GenCC submitters rate it definitive or strong
  • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

    A group of GPI anchor defects (PIGN, PIGA, PIGT, PIGQ and related genes) with low muscle tone, seizures, developmental delay and congenital anomalies.

    • 3 GenCC submitters rate it definitive or strong
  • Disorders of GPI Anchor Biosynthesis

    A group of inherited conditions caused by variants in the PIG, PGAP and related genes needed to make and attach the GPI anchor, typically causing developmental delay, low muscle tone and epilepsy.

    • 3 GenCC submitters rate it definitive or strong

Broader groupings

• Congenital Disorders of Glycosylation

  • Congenital Disorders of Glycosylation (CDG)

    One of 98 genes linked to it

    A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

    • 3 GenCC submitters rate it definitive or strong

• Epilepsy (Full Panel)

  • Epilepsy

    One of 171 genes linked to it

    A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

    • 3 GenCC submitters rate it definitive or strong

How PIGA is laid out

Exons make up 3.6 kb of the gene's 16.1 kb; 1,455 of those bases code for the protein.

How a genome test reads PIGA

Genes linked to the same conditions

• PIGNphosphatidylinositol glycan anchor biosynthesis class NShares 3 conditions
• PIGQphosphatidylinositol glycan anchor biosynthesis class QShares 3 conditions
• PIGTphosphatidylinositol glycan anchor biosynthesis class TShares 3 conditions
• ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 2 conditions
• ATP6AP2ATPase H+ transporting accessory protein 2Shares 2 conditions
• CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotaseShares 2 conditions
• KCTD7potassium channel tetramerization domain containing 7Shares 2 conditions
• NUS1NUS1 dehydrodolichyl diphosphate synthase subunitShares 2 conditions
• PGAP2post-GPI attachment to proteins 2Shares 2 conditions
• PGAP3post-GPI attachment to proteins phospholipase 3Shares 2 conditions
• PIGBphosphatidylinositol glycan anchor biosynthesis class BShares 2 conditions
• PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)Shares 2 conditions

Traits linked to PIGA

The Human Phenotype Ontology lists these as features of the rare conditions PIGA can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.16-c6eea6bf.

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