Congenital disorders of glycosylation
Gene: PIGS
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:11 a.m. | Last Modified: 3 Mar 2022, 11:18 a.m.
Panel Version: 2.80
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 29 Jun 2020, 9:52 a.m. | Last Modified: 29 Jun 2020, 9:52 a.m.
Panel Version: 2.12
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.Created: 29 Jun 2020, 9:51 a.m. | Last Modified: 29 Jun 2020, 9:51 a.m.
Panel Version: 2.11
Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert listCreated: 26 Jan 2020, 8:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 18 618143
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: PIGS.
Source Expert Review Green was added to PIGS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: PIGS.
Phenotypes for gene: PIGS were changed from Glycosylphosphatidylinositol biosynthesis defect 18 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 Congenital disorders of glycosylation. 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 618143 Review for gene: PIGS was set to GREEN gene: PIGS was marked as current diagnostic