PIGA Chromosome X
Phosphatidylinositol glycan anchor biosynthesis class A
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What This Gene Does
This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"Glycosyl transferases group 1 domain containing|Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex"
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000165195
Associated Conditions (11)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Inborn genetic diseases
Paroxysmal nocturnal hemoglobinuria 1
PIGA-related disorder
Thyroid cancer
nonmedullary
1
Paroxysmal nocturnal hemoglobinuria
Nonpapillary renal cell carcinoma
Epileptic encephalopathy
Neurodevelopmental disorder with epilepsy and hemochromatosis
Key Variants
RS1057524256
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
RS1060499666
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
RS1174537633
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
RS1380833875
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
RS1555945480
Conflicting classifications of pathogenicity
Paroxysmal nocturnal hemoglobinuria 1, Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1
Health Risk
RS1555945553
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
RS1569179995
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
RS1569180071
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
RS1602206586
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1602206653
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
RS1602208326
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
RS201119959
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057524256 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1060499666 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1174537633 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1380833875 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1555945480 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal nocturnal hemoglobinuria 1, Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1 |
| RS1555945553 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1569179995 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1569180071 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1602206586 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1602206653 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1602208326 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS201119959 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS202161781 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS2147723922 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS2519326222 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, PIGA-related disorder, Thyroid cancer |
| RS2519331987 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS369608621 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS375401655 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS748902332 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS752798208 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, PIGA-related disorder, Inborn genetic diseases |
| RS760682734 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS769061128 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases |
| RS772225061 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, PIGA-related disorder, Inborn genetic diseases |
| RS776182358 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS780237513 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS797044924 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1 |
| RS1057523554 | Health Risk | Likely pathogenic | — |
| RS1057523626 | Health Risk | Likely pathogenic | — |
| RS1060499625 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1602206514 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1602208229 | Health Risk | Likely pathogenic | — |
| RS1602212285 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1921817445 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1921924356 | Health Risk | Likely pathogenic | Paroxysmal nocturnal hemoglobinuria 1, Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1 |
| RS1922162801 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1922179572 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS199422232 | Health Risk | Likely pathogenic | Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria |
| RS2147717286 | Health Risk | Likely pathogenic | Nonpapillary renal cell carcinoma, Paroxysmal nocturnal hemoglobinuria, Thyroid cancer |
| RS2147724073 | Health Risk | Likely pathogenic | Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1 |
| RS2147727488 | Health Risk | Likely pathogenic | — |
| RS2519321757 | Health Risk | Likely pathogenic | Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1 |
| RS2519321980 | Health Risk | Likely pathogenic | — |
| RS2519324628 | Health Risk | Likely pathogenic | Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1 |
| RS2519326142 | Health Risk | Likely pathogenic | Epileptic encephalopathy, Thyroid cancer, nonmedullary |
| RS2519331657 | Health Risk | Likely pathogenic | Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1 |
| RS2519331818 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS2519331896 | Health Risk | Likely pathogenic | Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1 |
| RS2519331917 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS2519331925 | Health Risk | Likely pathogenic | Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1 |
| RS587777398 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 2, Neurodevelopmental disorder with epilepsy and hemochromatosis, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |