Gene
PIGL
phosphatidylinositol glycan anchor biosynthesis class L
- HGNC 8966↗(opens in a new tab)
- Ensembl gene ENSG00000108474↗(opens in a new tab)
- NCBI Gene 9487↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p11.2
- Coordinates
- Chromosome 17: 16,217,210–16,326,411 (GRCh38)
- Exons
- 7 exons across 109.2 kb
- Protein
- 252 amino acids
- Also known as
- PIG-L
- MANE Select transcript
- ENST00000225609.10NM_004278.4
- 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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Get my Genome TestCurated reports relevant to this gene
GPI Anchor Biosynthesis Defects
- 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.
- 4 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.
- 4 GenCC submitters rate it definitive or strong
Intellectual Disability
One of 233 genes linked to it
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
How PIGL is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 1.3 kb of the gene's 109.2 kb; 759 of those bases code for the protein.
How a genome test reads PIGL
8
positions in PIGL 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 109.2 kb of PIGL, introns included, not only the 1.3 kb of exons.
Genes linked to the same conditions
- PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)Shares 3 conditions
- ATP6AP2ATPase H+ transporting accessory protein 2Shares 2 conditions
- MAN1B1mannosidase alpha class 1B member 1Shares 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
- PIGAphosphatidylinositol glycan anchor biosynthesis class AShares 2 conditions
- PIGCphosphatidylinositol glycan anchor biosynthesis class CShares 2 conditions
- PIGNphosphatidylinositol glycan anchor biosynthesis class NShares 2 conditions
- PIGOphosphatidylinositol glycan anchor biosynthesis class OShares 2 conditions
- PIGTphosphatidylinositol glycan anchor biosynthesis class TShares 2 conditions
- PIGVphosphatidylinositol glycan anchor biosynthesis class VShares 2 conditions
Traits linked to PIGL
The Human Phenotype Ontology lists these as features of the rare conditions PIGL can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad head shape
- Wide nasal bridge
- Abnormal dentition
- Abnormality of dental shape
- Decreased size of tooth
- Depressed nasal bridge
- Eye folds
- Failure of development of between one and six teeth
Show 39 more traits
- Flat nose
- Full lips
- Short philtrum
- Abnormal facial shape
- Broad opening between the eyelids
- Cleft lower lip
- Cleft palate
- Coarse facial features
- Corners of eye widely separated
- Delayed eruption of teeth
- Downturned corners of mouth
- Drooling
- Drooping lower lip
- Extra teeth
- Highly arched eyebrow
- Limited hair on end of eyebrow
- Open mouth
- Prominent forehead
- Tented mouth
- Upward slanting of the opening between the eyelids
- Widely spaced teeth
- Abnormal parietal bone morphology
- Asymmetry of the posterior head
- Bifid uvula
- Big lower jaw
- Broad philtrum
- Bulbous nose
- Cleft lip
- Decreased head circumference
- High palate
- Increased head circumference
- Little lower jaw
- Prominent nasal bridge
- Round face
- Short neck
- Frontal bossing
- Full lower lip
- Webbed neck
- Wide mouth
Abnormality of the nervous system
- Epilepsy
- Intellectual disability
- Global developmental delay
- Degeneration of cerebrum
- Grand mal seizures
- Inability to coordinate movements when walking
- Myoclonic seizure
- Reduced cerebral white matter volume
Show 15 more traits
- Thin corpus callosum
- Abnormal gait
- Ataxia
- Autism
- Autism spectrum disorder
- Cerebral hypomyelination
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Diminished deep tendon reflex
- EEG with polyspike wave complexes
- EEG with spike-wave complexes
- Intellectual disability, severe
- IQ between 34 and 49
- Jerking
- Violent behavior
- Wide based walk
Abnormality of the cardiovascular system
- Redness of skin or mucous membrane
- Pulmonary valve atresia
- Tetralogy of Fallot
- Transposition of the great arteries
- Double outlet right ventricle
- Hole in heart wall separating two lower heart chambers
- Narrowing of blood vessel below aortic heart valve
- Narrowing of lung artery
Show 2 more traits
Abnormality of the musculoskeletal system
- Decreased muscle tone in infant
- Abnormal shape of end part of bone
- Absent collarbone
- Funnel chest
- Abnormal formation of the hip
- Breakdown of bone
- Scoliosis
- Low muscle tone
Show 1 more trait
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.). PIGL gene: phosphatidylinositol glycan anchor biosynthesis class L. Retrieved 17 October 2026, from https://dantelabs.com/genes/pigl
Dante Labs. PIGL gene: phosphatidylinositol glycan anchor biosynthesis class L [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pigl
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