PIGT Chromosome 20
Phosphatidylinositol glycan anchor biosynthesis class T
Upload your DNA to see your personal genotypes for variants in PIGT.
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 an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Phosphatidylinositol glycan anchor biosynthesis|MicroRNA protein coding host genes|Glycosylphosphatidylinositol transamidase complex"
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000124155
Associated Conditions (11)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Inborn genetic diseases
PIGT-related disorder
Malignant tumor of urinary bladder
Melanoma
Paroxysmal nocturnal hemoglobinuria 2
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Neurodevelopmental delay
Seizure
Global developmental delay
Key Variants
RS139366969
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, PIGT-related disorder
Health Risk
RS1466637488
Conflicting classifications of pathogenicity
Health Risk
RS149740779
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, PIGT-related disorder, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
RS201944222
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
RS2741582
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
RS374179368
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Melanoma, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
RS375947336
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
RS569386009
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
RS574183358
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Paroxysmal nocturnal hemoglobinuria 2, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
RS574857016
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
RS746079811
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
RS760395465
Conflicting classifications of pathogenicity
Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139366969 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, PIGT-related disorder |
| RS1466637488 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149740779 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, PIGT-related disorder, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS201944222 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS2741582 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS374179368 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Melanoma, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS375947336 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS569386009 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS574183358 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Paroxysmal nocturnal hemoglobinuria 2, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS574857016 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS746079811 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS760395465 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS769195904 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Familial cancer of breast, Ovarian serous cystadenocarcinoma |
| RS773624614 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Paroxysmal nocturnal hemoglobinuria 2, Inborn genetic diseases |
| RS774753616 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS2145433134 | Health Risk | Likely pathogenic | — |
| RS2145478387 | Health Risk | Likely pathogenic | — |
| RS571714796 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS587777027 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS768580788 | Health Risk | Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS1334035467 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS199968454 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS200790673 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Malignant tumor of urinary bladder, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS201317502 | Health Risk | Pathogenic | PIGT-related disorder, Multiple congenital anomalies-hypotonia-seizures syndrome 3, PIGT-related disorder |
| RS2145450794 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2515530148 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS527236032 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS749895437 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS751861982 | Health Risk | Pathogenic | PIGT-related disorder, Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases |
| RS756632799 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS763009552 | Health Risk | Pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS777937565 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1277383877 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Seizure, Global developmental delay |
| RS527236031 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS754517456 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS771157170 | Health Risk | Pathogenic/Likely pathogenic | PIGT-related disorder, Multiple congenital anomalies-hypotonia-seizures syndrome 3, PIGT-related disorder |
| RS771691280 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS778531326 | Health Risk | Pathogenic/Likely pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| RS1555876283 | Health Risk | risk factor | Paroxysmal nocturnal hemoglobinuria 2, Paroxysmal nocturnal hemoglobinuria 2 |
| RS587777028 | Health Risk | risk factor | Paroxysmal nocturnal hemoglobinuria 2, Paroxysmal nocturnal hemoglobinuria 2 |
| RS776974834 | Health Risk | risk factor | Paroxysmal nocturnal hemoglobinuria 2, Paroxysmal nocturnal hemoglobinuria 2 |