Congenital disorders of glycosylation
Gene: PIGT

PIGT (phosphatidylinositol glycan anchor biosynthesis class T)
EnsemblGeneIds (GRCh38): ENSG00000124155
EnsemblGeneIds (GRCh37): ENSG00000124155
OMIM: 610272, Gene2Phenotype
PIGT is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: 3 new variants in 2 families (PMID 28327575). A total of 6 variants have now been reported, this gene is also a confirmed G2P gene for Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Created: 4 May 2017, 12:50 p.m.

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 3 variants reported in 3 unrelated families, supporting in vitro evidence also available.
Created: 19 Dec 2016, 4:27 p.m.

Comment on phenotypes: Also associated with Paroxysmal nocturnal hemoglobinuria 2 615399 (monoallelic and somatic variants)
Created: 19 Dec 2016, 4:23 p.m.

Created: 19 Dec 2016, 4:23 p.m.

Panel version: 0.175

Daniel Ungar (University of York, Department of Biology)

Red List (low evidence)

Four patients from a single consanguineous family
Created: 13 Dec 2016, 5:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

23636107

Created: 13 Dec 2016, 5:39 p.m.

Panel version: 0.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398

OMIM

610272

Clinvar variants

Variants in PIGT

Penetrance

Complete

Publications

Panels with this gene