PIGO Chromosome 9
Phosphatidylinositol glycan anchor biosynthesis class O
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What This Gene Does
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
Phosphatidylinositol glycan anchor biosynthesis
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000165282
Associated Conditions (6)
Hyperphosphatasia with intellectual disability syndrome 2
PIGO-related disorder
Inborn genetic diseases
Intellectual disability
Hyperphosphatasia-intellectual disability syndrome
Hyperphosphatasia with intellectual disability syndrome 1
Key Variants
RS1057518632
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS1269359376
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS138028827
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, PIGO-related disorder, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS139155910
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS141121202
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS142276590
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS142658052
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS144103228
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS146501297
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS147098410
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS147101825
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, PIGO-related disorder, Hyperphosphatasia with intellectual disability syndrome 2
Health Risk
RS147316771
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 2, Intellectual disability, PIGO-related disorder
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1378962389 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1391418639 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1430341179 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1460165646 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1554672911 | Health Risk | Pathogenic | — |
| RS1563996824 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1587162510 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS1587176440 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1587178357 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1657564568 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1829352034 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1829372756 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1829412663 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1829434454 | Health Risk | Pathogenic | — |
| RS1829446449 | Health Risk | Pathogenic | — |
| RS1829507609 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1829605743 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1829614049 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1829625950 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2131073372 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2131074060 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2131074579 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2131075608 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2131077198 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2131083888 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490435492 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490436497 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490447870 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490448849 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490450597 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490457430 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490457505 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490461316 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS2490463730 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS745452743 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS750636989 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS751086453 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS756803653 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS759217806 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS760848629 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS763591247 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS763992668 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS765723177 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS766384490 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS776601736 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1199247059 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1247927038 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS142164373 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1563998317 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |
| RS1587166550 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2 |