Congenital disorders of glycosylation
Gene: PGM1

PGM1 (phosphoglucomutase 1)
EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 12 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P36871-1
Created: 9 Jan 2020, 2:43 p.m. | Last Modified: 9 Jan 2020, 2:43 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:43 p.m.
Last Modified: 9 Jan 2020, 2:43 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

GlyGen link updated April 2021: https://www.glygen.org/protein/P36871-1#Disease
Created: 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.

Created: 19 Dec 2016, 10:47 a.m.

Panel version: 2.66

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Also classed as glycogenosis
Created: 13 Dec 2016, 5:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

27206562

Created: 13 Dec 2016, 5:09 p.m.

Panel version: 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Congenital disorder of deglycosylation 615273

OMIM

171900

Clinvar variants

Variants in PGM1

Penetrance

Complete

Publications

27206562

Panels with this gene