| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.123 | PYGM | Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.123 | PYGM | Ellen McDonagh Mode of inheritance for gene: PYGM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.122 | PYGM | Ellen McDonagh Classified gene: PYGM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.122 | PYGM | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.122 | PYGM | Ellen McDonagh Gene: pygm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | PYGM | Chiara Marini Bettolo commented on gene: PYGM: McArdle's disease. Differential diagnosis with LGMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | PYGM | Louise Daugherty Source NHS GMS was added to PYGM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | PYGM | Louise Daugherty Source Yorkshire and North East GLH was added to PYGM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | PYGM | Chiara Marini Bettolo reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 8316268, 12666117; Phenotypes: McArdle disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | PYGM |
Louise Daugherty 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 |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | PYGM | Ana Topf reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: ; Publications: 8316268, 12666117; Phenotypes: McArdle disease, 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | PYGM |
Louise Daugherty 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 |
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