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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.137 | NEB | Ellen McDonagh Marked gene: NEB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.137 | NEB | Ellen McDonagh Gene: neb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.137 | NEB | Ellen McDonagh Classified gene: NEB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.137 | NEB | 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 v1.137 | NEB | Ellen McDonagh Gene: neb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | NEB | Chiara Marini Bettolo edited their review of gene: NEB: Added comment: Nemaline myopathy. Variable disease spectrum from severe early onset to milder late onset. Usually CK normal or mildly raised ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | NEB | Louise Daugherty Source NHS GMS was added to NEB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | NEB | Louise Daugherty Source Yorkshire and North East GLH was added to NEB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.69 | NEB | Louise Daugherty Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, 256030; congenital myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | NEB | Chiara Marini Bettolo reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359044, 12207937; Phenotypes: congenital myopathy, nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | NEB |
Louise Daugherty Mode of inheritance for gene NEB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB Publications for gene NEB were changed from to 9359044; 12207937 |
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | NEB | Ana Topf reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9359044, 12207937; Phenotypes: Nemaline myopathy 2, autosomal recessive, 256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | NEB |
Louise Daugherty gene: NEB was added gene: NEB was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: NEB was set to |