Congenital disorders of glycosylation
Gene: PMM2GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=O15305-1Created: 9 Jan 2020, 2:45 p.m. | Last Modified: 9 Jan 2020, 2:45 p.m.
Panel Version: 2.0
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported.Created: 19 Dec 2016, 11:04 a.m.
PMM2 was added to Congenital disorders of glycosylationpanel. Sources: Eligibility statement prior genetic testing
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for PMM2 were set to 11058895; 11409861; 11875054
PMM2 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
PMM2 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
PMM2 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
PMM2 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
PMM2 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
PMM2 was created by sleigh