PIGN Chromosome 18
Phosphatidylinositol glycan anchor biosynthesis class N
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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 found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Phosphatidylinositol glycan anchor biosynthesis
Locus Type
gene with protein product
Location
18q21.33
Ensembl
ENSG00000197563
Associated Conditions (5)
Abnormal brain morphology
Multiple congenital anomalies-hypotonia-seizures syndrome 1
PIGN-related disorder
Inborn genetic diseases
Multiple congenital anomalies-hypotonia-seizures syndrome
Key Variants
RS1060499763
Conflicting classifications of pathogenicity
Abnormal brain morphology, Multiple congenital anomalies-hypotonia-seizures syndrome 1, PIGN-related disorder
Health Risk
RS1167158496
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1224775480
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Health Risk
RS1251827296
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Health Risk
RS142508030
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Health Risk
RS149709766
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Health Risk
RS1555679237
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Health Risk
RS1568244811
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Health Risk
RS1599663316
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Health Risk
RS182470608
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Health Risk
RS187036839
Conflicting classifications of pathogenicity
Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
Health Risk
RS199573774
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Health Risk
All Variants (175)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886039218 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS927198220 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1050258088 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1057520345 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1360977917 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1376931989 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1444518753 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1462805697 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1486949098 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS1555685797 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS2512444516 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS2513984671 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS369486176 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS374704368 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS376226764 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS558341655 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases |
| RS587777187 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS746882521 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS750418747 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS760977825 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS765995917 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS768412580 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS772411133 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS776697598 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS779636222 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome, Inborn genetic diseases |