Congenital disorders of glycosylation
Gene: PIGLGlyGen link updated April 2021: https://www.glygen.org/protein/Q9Y2B2-1#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 4 variants reported in 7 unrelated cases.Created: 19 Dec 2016, 10:45 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 PIGL were set to 22444671
PIGL was added to Congenital disorders of glycosylationpanel. Source: UKGTN
PIGL was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
PIGL was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene PIGL was set to BIALLELIC, autosomal or pseudoautosomal
PIGL was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
PIGL was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
PIGL was created by sleigh