Congenital disorders of glycosylation

Gene: PIGS

Green List (high evidence)

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

Green List (high evidence)

Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to ID/EE.
Sources: Expert list

Created: 26 Jan 2020, 8:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 18 618143

Publications

• 30269814

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