Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: PFKM

Amber List (moderate evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Some phenotypic overlap.
Created: 29 Jun 2020, 10:51 a.m. | Last Modified: 29 Jun 2020, 10:51 a.m.
Panel Version: 0.35

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Metabolic myopathy gene due to accumulation of glycogen in muscle tissue. Unsure if consisten with LGMD phenotype.

PMID: 24427140: Adult patient reported with lifelong muscle weakness.

PMID: 27066546: 2 siblings reported with glycogen storage disease. Juvenile onset exercise intolerance. Muscle biopsy showed myopathic changes in both siblings.

PMID: 30792690: 1 adult patient reported, onset at 33. Presented with mild proximal muscle weakness, mainly in the lower limbs.
Sources: Expert Review
Created: 29 Jun 2020, 6:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease VII (MIM#232800)

Publications

History Filter Activity

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pfkm has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pfkm has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: PFKM was added gene: PFKM was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PFKM were set to 24427140; 27066546; 30792690 Phenotypes for gene: PFKM were set to Glycogen storage disease VII (MIM#232800) Review for gene: PFKM was set to AMBER