| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.101 | VMA21 | Ellen McDonagh Classified gene: VMA21 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.101 | VMA21 | Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to consensus from reviewers and submitted gene lists from GLHs. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.101 | VMA21 | Ellen McDonagh Gene: vma21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | VMA21 | Chiara Marini Bettolo edited their review of gene: VMA21: Added comment: XMEA. Differential diagnosis with LGMD (proximal weakness and raised CK) particularly in milder adult onset forms; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | VMA21 | Louise Daugherty Source NHS GMS was added to VMA21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | VMA21 | Louise Daugherty Source Yorkshire and North East GLH was added to VMA21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.57 | VMA21 | Louise Daugherty Phenotypes for gene: VMA21 were changed from Myopathy, X-linked, with excessive autophagy, 310440 to Myopathy, X-linked, with excessive autophagy, 310440; X-Linked myopathy with excessive autophagy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | VMA21 | Chiara Marini Bettolo edited their review of gene: VMA21: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | VMA21 | Chiara Marini Bettolo reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315026, 19379691; Phenotypes: X-Linked myopathy with excessive autophagy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | VMA21 |
Louise Daugherty Mode of inheritance for gene VMA21 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21 Publications for gene VMA21 were changed from to 23315026; 19379691 |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | VMA21 | Ana Topf reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315026, 19379691; Phenotypes: Myopathy, X-linked, with excessive autophagy, 310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | VMA21 |
Louise Daugherty gene: VMA21 was added gene: VMA21 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: VMA21 was set to |
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