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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.176 | COL12A1 | Ellen McDonagh Classified gene: COL12A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.176 | COL12A1 | 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 v1.176 | COL12A1 | Ellen McDonagh Gene: col12a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | COL12A1 | Chiara Marini Bettolo edited their review of gene: COL12A1: Added comment: congenital myopathy; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | COL12A1 | Louise Daugherty Source NHS GMS was added to COL12A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | COL12A1 | Louise Daugherty Source Yorkshire and North East GLH was added to COL12A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.55 | COL12A1 | Louise Daugherty Phenotypes for gene: COL12A1 were changed from Ullrich congenital muscular dystrophy 2, 616470 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | COL12A1 | Chiara Marini Bettolo reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334604; Phenotypes: Bethlem myopathy, Ullrich congenital muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | COL12A1 |
Louise Daugherty Mode of inheritance for gene COL12A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Ullrich congenital muscular dystrophy 2, 616470 for gene: COL12A1 Publications for gene COL12A1 were changed from to 24334604 |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | COL12A1 | Ana Topf reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334604; Phenotypes: Ullrich congenital muscular dystrophy 2, 616470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | COL12A1 |
Louise Daugherty gene: COL12A1 was added gene: COL12A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: COL12A1 was set to |
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