Genetic epilepsy syndromesGene: PIGS
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
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
Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143
Variants in this GENE are reported as part of current diagnostic practice
Tag watchlist tag was added to gene: PIGS.
Phenotypes for gene: PIGS were changed from Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143 to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Gene: pigs has been classified as Amber List (Moderate Evidence).
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