Rhabdomyolysis and Metabolic Myopathy

Gene: PFKM

Green List (high evidence)

PFKM (phosphofructokinase, muscle)
EnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively.

Well established gene-disease association.
Created: 27 Apr 2022, 9:05 a.m. | Last Modified: 27 Apr 2022, 9:05 a.m.
Panel Version: 0.13408

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease VII, MIM# 232800

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease VII, MIM# 232800
OMIM
610681
Clinvar variants
Variants in PFKM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pfkm has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: PFKM were changed from Glycogen storage disease VII 232800 to Glycogen storage disease VII, MIM# 232800

14 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PFKM were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PFKM was added gene: PFKM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease VII 232800