Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.174 | DNM2 | Ellen McDonagh Classified gene: DNM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.174 | DNM2 | 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 v1.174 | DNM2 | Ellen McDonagh Gene: dnm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | DNM2 | Chiara Marini Bettolo edited their review of gene: DNM2: Added comment: congenital myopathy; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | DNM2 | Louise Daugherty Source NHS GMS was added to DNM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | DNM2 | Louise Daugherty Source Yorkshire and North East GLH was added to DNM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.62 | DNM2 | Louise Daugherty Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, 160150 to Centronuclear myopathy 1, 160150; Centronuclear myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | DNM2 | Chiara Marini Bettolo reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17932957; Phenotypes: Centronuclear myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | DNM2 |
Louise Daugherty Mode of inheritance for gene DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Centronuclear myopathy 1, 160150 for gene: DNM2 Publications for gene DNM2 were changed from to 17932957 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | DNM2 | Ana Topf reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17932957; Phenotypes: Centronuclear myopathy 1, 160150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | DNM2 |
Louise Daugherty gene: DNM2 was added gene: DNM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: DNM2 was set to |