Rhabdomyolysis and metabolic muscle disorders
Gene: PFKM

PFKM (phosphofructokinase, muscle)
EnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 13 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 VII

Publications

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

Created: 14 Jul 2017, 3:23 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 nine variants reported
Created: 5 Dec 2016, 11:08 a.m.

Created: 5 Dec 2016, 11:08 a.m.

Panel version: 0.73

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Glycogen storage disease VII 232800

OMIM

610681

Clinvar variants

Variants in PFKM

Penetrance

Complete

Publications

Panels with this gene