Congenital disorders of glycosylation
Gene: PGM1GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P36871-1Created: 9 Jan 2020, 2:43 p.m. | Last Modified: 9 Jan 2020, 2:43 p.m.
Panel Version: 2.0
GlyGen link updated April 2021: https://www.glygen.org/protein/P36871-1#DiseaseCreated: 8 Apr 2021, 1:27 p.m. | Last Modified: 8 Apr 2021, 1:27 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 9 variants reported.Created: 19 Dec 2016, 10:47 a.m.
Also classed as glycogenosisCreated: 13 Dec 2016, 5:09 p.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 PGM1 were set to 27206562
PGM1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
PGM1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
PGM1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
PGM1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
PGM1 was created by sleigh