| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | PFKM | Zornitza Stark Marked gene: PFKM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | PFKM | Zornitza Stark Added comment: Comment when marking as ready: Some phenotypic overlap. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | PFKM | Zornitza Stark Gene: pfkm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | PFKM | Zornitza Stark Classified gene: PFKM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | PFKM | Zornitza Stark Gene: pfkm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 | PFKM |
Crystle Lee 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 Added comment: 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 |
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