Gene
PIGW
phosphatidylinositol glycan anchor biosynthesis class W
- HGNC 23213↗(opens in a new tab)
- Ensembl gene ENSG00000277161↗(opens in a new tab)
- NCBI Gene 284098↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q12
- Coordinates
- Chromosome 17: 36,534,987–36,539,303 (GRCh38)
- Exons
- 2 exons across 4.3 kb
- Protein
- 504 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- Gwt1, FLJ37433, PIG-W
- MANE Select transcript
- ENST00000614443.2NM_001346754.2
- 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
- Hyperphosphatasia With Impaired Intellectual Development (Mabry Syndrome)Autosomal recessive
A group of GPI anchor defects (PIGV, PIGO, PGAP2, PGAP3, PIGW, PIGY) in which a persistently high alkaline phosphatase accompanies developmental delay, seizures and short end bones of the fingers.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Some affected children have had seizure control improved with pyridoxine (vitamin B6), so a diagnosis can guide a specialist trial of treatment.
- 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.
- 2 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.
- 2 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How PIGW 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 2.8 kb of the gene's 4.3 kb; 1,515 of those bases code for the protein.
How a genome test reads PIGW
1
position in PIGW 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 4.3 kb of PIGW, introns included, not only the 2.8 kb of exons.
Genes linked to the same conditions
- PGAP2post-GPI attachment to proteins 2Shares 3 conditions
- PGAP3post-GPI attachment to proteins phospholipase 3Shares 3 conditions
- PIGOphosphatidylinositol glycan anchor biosynthesis class OShares 3 conditions
- PIGVphosphatidylinositol glycan anchor biosynthesis class VShares 3 conditions
- PIGYphosphatidylinositol glycan anchor biosynthesis class YShares 3 conditions
- PIGAphosphatidylinositol glycan anchor biosynthesis class AShares 2 conditions
- PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)Shares 2 conditions
- PIGLphosphatidylinositol glycan anchor biosynthesis class LShares 2 conditions
- PIGNphosphatidylinositol glycan anchor biosynthesis class NShares 2 conditions
- PIGTphosphatidylinositol glycan anchor biosynthesis class TShares 2 conditions
- ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5Shares 2 conditions
- A4GALTalpha 1,4-galactosyltransferase (P1PK blood group)Shares 1 condition
Traits linked to PIGW
The Human Phenotype Ontology lists these as features of the rare conditions PIGW can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Coarse facial features
- High palate
- Tented mouth
- Wide nasal bridge
- Abnormal facial shape
- Broad opening between the eyelids
- Downturned corners of mouth
- Abnormal parietal bone morphology
Show 17 more traits
- Asymmetry of the posterior head
- Bifid uvula
- Big lower jaw
- Broad head shape
- Broad philtrum
- Bulbous nose
- Decreased head circumference
- Eye folds
- Highly arched eyebrow
- Increased head circumference
- Little lower jaw
- Prominent nasal bridge
- Round face
- Short neck
- Short philtrum
- Upward slanting of the opening between the eyelids
- Abnormally large tongue
Abnormality of the nervous system
- Hypsarrhythmia
- Profound global developmental delay
- Seizure affecting one half of brain
- Severe global developmental delay
- Tonic seizure
- Widened subarachnoid space
- Epilepsy
- Global developmental delay
Show 13 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.). PIGW gene: phosphatidylinositol glycan anchor biosynthesis class W. Retrieved 16 October 2026, from https://dantelabs.com/genes/pigw
Dante Labs. PIGW gene: phosphatidylinositol glycan anchor biosynthesis class W [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pigw
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