Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: PFKMI agree with Zornitza Stark that PFKM variants cause metabolic myopathy due to accumulation of glycogen in muscle tissue. However, this gene has been included in this panel along with other genes implicated in primarily metabolic conditions with a myopathic phenotype (ACADVL, CPT2, GAA, PYGM), in view of it being part of the differential diagnosis, as per recommendations made by clinical experts from NHS Genomic Laboratory Hubs. Hence, the rating will remain green for this gene on this panel.Created: 15 Sep 2023, 5:16 p.m. | Last Modified: 15 Sep 2023, 5:16 p.m.
Panel Version: 4.22
Metabolic myopathy gene due to accumulation of glycogen in muscle tissue, rather than LGMD. Not convinced phenotypic overlap with LGMD is sufficient to justify Green rating on this panel.
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.Created: 29 Jun 2020, 10:48 a.m. | Last Modified: 29 Jun 2020, 10:48 a.m.
Panel Version: 2.6
Phenotypes
Glycogen storage disease VII (MIM#232800)
Publications
Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.Created: 28 Nov 2019, 4:38 p.m. | Last Modified: 28 Nov 2019, 4:38 p.m.
Panel Version: 1.134
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.Created: 28 Nov 2019, 4:38 p.m. | Last Modified: 28 Nov 2019, 4:38 p.m.
Panel Version: 1.133
Glycongenosis. Exercise indused myalgia and myoglobinuria.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII, 232800
Publications
Gene: pfkm has been classified as Green List (High Evidence).
Mode of inheritance for gene: PFKM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: pfkm has been classified as Green List (High Evidence).
Source NHS GMS was added to PFKM.
Source Yorkshire and North East GLH was added to PFKM.
Mode of inheritance for gene PFKM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM Publications for gene PFKM were changed from to 7603526
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