PIGW Chromosome 17
Phosphatidylinositol glycan anchor biosynthesis class W
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What This Gene Does
The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Phosphatidylinositol glycan anchor biosynthesis
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000277161
Associated Conditions (5)
Hyperphosphatasia with intellectual disability syndrome 5
Inborn genetic diseases
Global developmental delay
Cleft palate
Abnormal skeletal morphology
Key Variants
RS1198359147
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS142067039
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS147622852
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS368008171
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS537323347
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS753385776
Conflicting classifications of pathogenicity
Global developmental delay, Cleft palate, Abnormal skeletal morphology
Health Risk
RS761046219
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS770634248
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS2074173475
Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS1170311490
Pathogenic
Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS1256773607
Pathogenic
Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
RS2510225840
Pathogenic
Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1198359147 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS142067039 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS147622852 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS368008171 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS537323347 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS753385776 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, Cleft palate, Abnormal skeletal morphology |
| RS761046219 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS770634248 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS2074173475 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS1170311490 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS1256773607 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS2510225840 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS2510226231 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5 |
| RS587777733 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5 |