Identity
HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
CGI-06,MCAHS3,NDAP,PNH2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51604
MIM: 610272
HGNC: 14938
Ensembl: ENSG00000124155
Variants:
dbSNP: 51604
ClinVar: 51604
TCGA: ENSG00000124155
COSMIC: PIGT
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33620284 | 2021 | Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3. | 1 |
| 33620284 | 2021 | Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3. | 1 |
| 32725661 | 2020 | Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients. | 5 |
| 32725661 | 2020 | Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients. | 5 |
| 28728837 | 2018 | Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. | 13 |
| 28728837 | 2018 | Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. | 13 |
| 28327575 | 2017 | Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. | 41 |
| 28327575 | 2017 | Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. | 41 |
| 23636107 | 2013 | A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. | 57 |
| 23733340 | 2013 | A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. | 37 |
| 23636107 | 2013 | A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. | 57 |
| 23733340 | 2013 | A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. | 37 |
| 15713669 | 2005 | Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex. | 2 |
| 15713669 | 2005 | Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex. | 2 |
| 12582175 | 2003 | Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge. | 34 |
Citation
Dessen P
PIGT (phosphatidylinositol glycan anchor biosynthesis class T)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47494/pigt
