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Genetic epilepsy syndromes

Gene: PIGS

Amber List (moderate evidence)

PIGS (phosphatidylinositol glycan anchor biosynthesis class S)
EnsemblGeneIds (GRCh38): ENSG00000087111
EnsemblGeneIds (GRCh37): ENSG00000087111
OMIM: 610271, Gene2Phenotype
PIGS is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in at least 3 unrelated cases, seizures were evident in 2 unrelated cases.
Created: 29 Jun 2020, 9:44 a.m. | Last Modified: 29 Jun 2020, 9:44 a.m.
Panel Version: 2.96

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia (one family) to ID/EE (two families). Although pregnancies were terminated in one family, features observed in the affected fetuses suggest a severe neurological phenotype and hence we have rated this gene Green on our Epilepsy and our ID panels. I have added the gene to your CDG panel.
Sources: Expert list
Created: 26 Jan 2020, 8:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 18 618143
Tags
watchlist
OMIM
610271
Clinvar variants
Variants in PIGS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: PIGS.

29 Jun 2020, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PIGS were changed from Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143 to Glycosylphosphatidylinositol biosynthesis defect 18 618143

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pigs has been classified as Amber List (Moderate Evidence).

26 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PIGS was added gene: PIGS was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143 Review for gene: PIGS was set to GREEN gene: PIGS was marked as current diagnostic