PIGV Chromosome 1
Phosphatidylinositol glycan anchor biosynthesis class V
Upload your DNA to see your personal genotypes for variants in PIGV.
What This Gene Does
This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis"
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000060642
Associated Conditions (5)
Hyperphosphatasia with intellectual disability syndrome 1
PIGV-related disorder
Inborn genetic diseases
Elevated circulating alkaline phosphatase concentration
Hyperphosphatasia-intellectual disability syndrome
Key Variants
RS1283326533
Conflicting classifications of pathogenicity
Health Risk
RS142192097
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1
Health Risk
RS143676075
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 1
Health Risk
RS145160045
Conflicting classifications of pathogenicity
PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder
Health Risk
RS146969255
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
Health Risk
RS147229452
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
Health Risk
RS147396061
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 1
Health Risk
RS148662665
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1
Health Risk
RS149379900
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1
Health Risk
RS180892038
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS185641230
Conflicting classifications of pathogenicity
Health Risk
RS2081360507
Conflicting classifications of pathogenicity
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1283326533 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142192097 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS143676075 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS145160045 | Health Risk | Conflicting classifications of pathogenicity | PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder |
| RS146969255 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS147229452 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS147396061 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS148662665 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS149379900 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS180892038 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS185641230 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2081360507 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369275802 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS372631555 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376257064 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376328153 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS534283082 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763773056 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS765449173 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS766452597 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS769023704 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774037693 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774605091 | Health Risk | Conflicting classifications of pathogenicity | Elevated circulating alkaline phosphatase concentration, Elevated circulating alkaline phosphatase concentration |
| RS886044116 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS959088580 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1271144650 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1418108487 | Health Risk | Likely pathogenic | — |
| RS759988046 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS139073416 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases, Hyperphosphatasia-intellectual disability syndrome |
| RS267606951 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS267606952 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS149690056 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS387907023 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |