Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 | DNM2 | Bryony Thompson Marked gene: DNM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 | DNM2 | Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 | DNM2 | Bryony Thompson Classified gene: DNM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 | DNM2 | Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.5 | DNM2 |
Bryony Thompson gene: DNM2 was added gene: DNM2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNM2 were set to 16227997; 33458580; 30232666; 24465259; 23938035 Phenotypes for gene: DNM2 were set to autosomal dominant centronuclear myopathy MONDO:0008048 Review for gene: DNM2 was set to GREEN gene: DNM2 was marked as current diagnostic Added comment: Distal myopathy is a common feature reported in affected cases. Sources: Literature |