Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: PFKMEnsemblGeneIds (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)
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 ReviewCreated: 29 Jun 2020, 6:27 a.m.
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 Amber
- Phenotypes
-
- Glycogen storage disease VII (MIM#232800)
- OMIM
- 610681
- Clinvar variants
- Variants in PFKM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Glycogen Storage Diseases
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pfkm has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pfkm has been classified as Amber List (Moderate Evidence).
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