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Epileptic encephalopathy

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 9 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, 1:22 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, 1:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
OMIM
610272
Clinvar variants
Variants in PIGT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PIGT was added to Epileptic encephalopathypanel. Sources: Literature

4 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PIGT was created by sleigh