| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 | BAG3 | Zornitza Stark Marked gene: BAG3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 | BAG3 | Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 | BAG3 | Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 | BAG3 | Zornitza Stark Classified gene: BAG3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.25 | BAG3 | Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 | BAG3 |
Elena Savva gene: BAG3 was added gene: BAG3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to PMID: 25208129; 22734908; 30061062 Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954 Review for gene: BAG3 was set to GREEN Added comment: OMIM notes onset is in late childhood to early teens. Mutation p.Pro209Leu is recurring. PMID: 25208129 - 1 heterozygous patient with lower limb weakness and onset at 34 years. PMID: 22734908 - 4 patients with heterozygous mutations. Patient 1 - onset at 13 years old with lumbar spine rigidity, finger flexion constractures and distal wasting in upper/lower limbs. Patient 2 - onset 8 years old with muscle stiffness in lower limbs and distal wasting at 12 years old. Patient 3 - lower limb deformity at 7 years old with declining mobility by 11 years of age. Patient 4 - Unknown onset but wheelchair bound by 14 years old. PMID: 30061062 - 1 patient with a de novo mutation, and childhood onset proximal muscle weakness and atrophy, with elevated CK. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||