PIGG Chromosome 4
Phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
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What This Gene Does
This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"Blood group antigens|Phosphatidylinositol glycan anchor biosynthesis"
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000174227
Associated Conditions (14)
Intellectual disability
autosomal recessive 53
Inborn genetic diseases
PIGG-related disorder
Hyperphosphatasia with intellectual disability syndrome 1
Seizure
Colon adenocarcinoma
Emm-null phenotype
Malignant lymphoma
large B-cell
diffuse
Malignant tumor of urinary bladder
BLOOD GROUP
EMM SYSTEM
Key Variants
RS116772777
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Inborn genetic diseases
Health Risk
RS140860254
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Intellectual disability
Health Risk
RS142598041
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Inborn genetic diseases
Health Risk
RS144411585
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, PIGG-related disorder
Health Risk
RS144638389
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Intellectual disability
Health Risk
RS149769844
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Intellectual disability
Health Risk
RS185712951
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, PIGG-related disorder
Health Risk
RS200770933
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Inborn genetic diseases
Health Risk
RS200917876
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Intellectual disability
Health Risk
RS201269761
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Intellectual disability
Health Risk
RS201842856
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Intellectual disability
Health Risk
RS372392424
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 53, Hyperphosphatasia with intellectual disability syndrome 1
Health Risk
All Variants (106)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116772777 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS140860254 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS142598041 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS144411585 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, PIGG-related disorder |
| RS144638389 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS149769844 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS185712951 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, PIGG-related disorder |
| RS200770933 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS200917876 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS201269761 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS201842856 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS372392424 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS373234665 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS373571744 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS528446220 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS549380649 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS552500897 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS555564479 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, PIGG-related disorder |
| RS746660978 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS748037957 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS748676621 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS757141700 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS766083746 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS780094078 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS781363662 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS782157451 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS921678414 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Inborn genetic diseases |
| RS962499498 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1209087083 | Health Risk | Likely pathogenic | — |
| RS150802299 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1553897582 | Health Risk | Likely pathogenic | — |
| RS1560394912 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1576983339 | Health Risk | Likely pathogenic | Seizure, Intellectual disability, autosomal recessive 53 |
| RS1576984787 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1720189292 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1726787605 | Health Risk | Likely pathogenic | — |
| RS1726823468 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1731469688 | Health Risk | Likely pathogenic | — |
| RS2108969826 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS2474580332 | Health Risk | Likely pathogenic | — |
| RS2474641210 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2474770136 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS2474888950 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS2474889714 | Health Risk | Likely pathogenic | — |
| RS779043705 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1183515598 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1226175402 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1229339759 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1293009471 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |
| RS1315006961 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 53, Intellectual disability |