Rhabdomyolysis and metabolic muscle disorders
Gene: PGAM2

PGAM2 (phosphoglycerate mutase 2)
EnsemblGeneIds (GRCh38): ENSG00000164708
EnsemblGeneIds (GRCh37): ENSG00000164708
OMIM: 612931, Gene2Phenotype
PGAM2 is in 7 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease X

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Jul 2017, 3:26 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least four variants reported three cases
Created: 5 Dec 2016, 11:10 a.m.

Created: 5 Dec 2016, 11:10 a.m.

Panel version: 0.73

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Glycogen storage disease X 261670

OMIM

612931

Clinvar variants

Variants in PGAM2

Penetrance

Complete

Publications

Panels with this gene