Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: PYGMComment on mode of inheritance: Confirmed in OMIM for relevant phenotype.Created: 28 Nov 2019, 4:26 p.m. | Last Modified: 28 Nov 2019, 4:26 p.m.
Panel Version: 1.123
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, 4:25 p.m. | Last Modified: 28 Nov 2019, 4:25 p.m.
Panel Version: 1.122
McArdle's disease. Differential diagnosis with LGMDCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
overlap phenotype with LGMDCreated: 10 May 2019, 3:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
McArdle disease
Publications
Mode of inheritance for gene: PYGM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: pygm has been classified as Green List (High Evidence).
Source NHS GMS was added to PYGM.
Source Yorkshire and North East GLH was added to PYGM.
Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes McArdle disease, 232600 for gene: PYGM Publications for gene PYGM were changed from to 8316268; 12666117
gene: PYGM was added gene: PYGM was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: PYGM was set to