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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.182 | ACTA1 | Ellen McDonagh Classified gene: ACTA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.182 | ACTA1 | Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.182 | ACTA1 | Ellen McDonagh Gene: acta1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | ACTA1 | Chiara Marini Bettolo edited their review of gene: ACTA1: Added comment: congenital myopathy; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | ACTA1 | Louise Daugherty Source NHS GMS was added to ACTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | ACTA1 | Louise Daugherty Source Yorkshire and North East GLH was added to ACTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | ACTA1 | Chiara Marini Bettolo reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938801; Phenotypes: congenital myopathy, scapuloperoneal myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | ACTA1 |
Louise Daugherty Mode of inheritance for gene ACTA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myopathy, scapulohumeroperoneal, 616852 for gene: ACTA1 Publications for gene ACTA1 were changed from to 25938801 |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | ACTA1 | Ana Topf reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25938801; Phenotypes: Myopathy, scapulohumeroperoneal, 616852; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | ACTA1 |
Louise Daugherty gene: ACTA1 was added gene: ACTA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: ACTA1 was set to |
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