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Inborn errors of metabolism

Gene: PIGT

Green List (high evidence)

PIGT (phosphatidylinositol glycan anchor biosynthesis class T)
EnsemblGeneIds (GRCh38): ENSG00000124155
EnsemblGeneIds (GRCh37): ENSG00000124155
OMIM: 610272, Gene2Phenotype
PIGT is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient evidence for this gene to be green on this panel
Created: 4 May 2017, 1:05 p.m.
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, 1:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398

Publications

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT Publications for gene PIGT were changed from 28327575 to 23636107; 28327575

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PIGT was added gene: PIGT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGT were set to 28327575 Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3