Gene
PIGT
phosphatidylinositol glycan anchor biosynthesis class T
- HGNC 14938↗(opens in a new tab)
- Ensembl gene ENSG00000124155↗(opens in a new tab)
- NCBI Gene 51604↗(opens in a new tab)
Summary
- Cytogenetic location
- 20q13.12
- Coordinates
- Chromosome 20: 45,416,141–45,426,241 (GRCh38)
- Exons
- 12 exons across 10.1 kb
- Protein
- 578 amino acids
- Also known as
- PIG-T
- MANE Select transcript
- ENST00000279036.12NM_015937.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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GPI Anchor Biosynthesis Defects
- 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.
- ClinGen rates the link definitive
- 5 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.
- ClinGen rates the link definitive
- 5 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.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How PIGT is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 10.1 kb; 1,737 of those bases code for the protein.
How a genome test reads PIGT
23
positions in PIGT where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 10.1 kb of PIGT, introns included, not only the 2.2 kb of exons.
Genes linked to the same conditions
- PIGAphosphatidylinositol glycan anchor biosynthesis class AShares 3 conditions
- PIGNphosphatidylinositol glycan anchor biosynthesis class NShares 3 conditions
- PGAP2post-GPI attachment to proteins 2Shares 2 conditions
- PGAP3post-GPI attachment to proteins phospholipase 3Shares 2 conditions
- PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)Shares 2 conditions
- PIGLphosphatidylinositol glycan anchor biosynthesis class LShares 2 conditions
- PIGOphosphatidylinositol glycan anchor biosynthesis class OShares 2 conditions
- PIGQphosphatidylinositol glycan anchor biosynthesis class QShares 2 conditions
- PIGVphosphatidylinositol glycan anchor biosynthesis class VShares 2 conditions
- PIGWphosphatidylinositol glycan anchor biosynthesis class WShares 2 conditions
- PIGYphosphatidylinositol glycan anchor biosynthesis class YShares 2 conditions
- ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5Shares 2 conditions
Traits linked to PIGT
The Human Phenotype Ontology lists these as features of the rare conditions PIGT can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad head shape
- Depressed nasal bridge
- High forehead
- Long philtrum
- Narrow forehead
- Downturned corners of mouth
- High, narrow palate
- Lambdoidal craniosynostosis
Show 16 more traits
Abnormality of the nervous system
- Headache
- Intellectual disability
- Intellectual disability, severe
- Degeneration of cerebellum
- Degeneration of cerebrum
- Generalized myoclonic seizure
- Generalized tonic seizure
- Grand mal seizures
Show 15 more traits
- Multifocal epileptiform discharges
- Myoclonic seizure
- Brief seizures with staring spells
- Central sleep apnea
- EEG with generalized sharp slow waves
- EEG with spike-wave complexes
- Generalized brain degeneration
- Head jerking
- Obstructive sleep apnea
- Ataxia
- Babinski sign
- Epilepsy
- Global developmental delay
- Loss of developmental milestones
- Small cerebellum
Abnormality of the musculoskeletal system
- Delayed bone maturation
- Low muscle tone
- Abnormally shaped skeletal
- Osteopenia
- Slender long bone
- Funnel chest
- Scoliosis
- Double-Jointed
Show 2 more traits
External links
Gene records
Transcript
Protein
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.
Cite this page
Dante Labs. (n.d.). PIGT gene: phosphatidylinositol glycan anchor biosynthesis class T. Retrieved 16 October 2026, from https://dantelabs.com/genes/pigt
Dante Labs. PIGT gene: phosphatidylinositol glycan anchor biosynthesis class T [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pigt
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