Congenital disorders of glycosylation
Gene: PIGOGlyGen link updated April 2021: https://www.glygen.org/protein/Q8TEQ8-1#DiseaseCreated: 8 Apr 2021, 1:48 p.m. | Last Modified: 8 Apr 2021, 1:48 p.m.
Panel Version: 2.66
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 8 variants reported.Created: 19 Dec 2016, 11:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for PIGO were set to 22683086; 27177984; 24129430
Publications for PIGO were set to 22683086; 27177984
Phenotypes for PIGO were set to ; Hyperphosphatasia with mental retardation syndrome 2 614749; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Publications for PIGO were set to 22683086
PIGO was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
PIGO was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene PIGO was set to BIALLELIC, autosomal or pseudoautosomal
PIGO was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
PIGO was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
PIGO was created by sleigh