PGAP2 Chromosome 11
Post-GPI attachment to proteins 2
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What This Gene Does
The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]
Associated Conditions (5)
Hyperphosphatasia with intellectual disability syndrome 3
Inborn genetic diseases
Cerebellar ataxia
intellectual disability
and dysequilibrium syndrome 3
Key Variants
RS1064797152
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
Health Risk
RS1487813766
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200164387
Conflicting classifications of pathogenicity
Health Risk
RS2495380745
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 3, Inborn genetic diseases
Health Risk
RS377757894
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
Health Risk
RS753497329
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1409597701
Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
Health Risk
RS1590416370
Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
Health Risk
RS745521288
Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
Health Risk
RS747658866
Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
Health Risk
RS752346360
Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
Health Risk
RS771218491
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064797152 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS1487813766 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200164387 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2495380745 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 3, Inborn genetic diseases |
| RS377757894 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS753497329 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1409597701 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS1590416370 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS745521288 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS747658866 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS752346360 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS771218491 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1590215915 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS1590414630 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS587776970 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS773359554 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS879255232 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3 |
| RS774843232 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 3, Cerebellar ataxia, intellectual disability |