| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.134 | DOK7 | Bryony Thompson Marked gene: DOK7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.134 | DOK7 | Bryony Thompson Gene: dok7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.134 | DOK7 | Bryony Thompson Publications for gene: DOK7 were set to PMID: 31453852; 32360404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.45 | DOK7 | Zornitza Stark Classified gene: DOK7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.45 | DOK7 | Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | DOK7 |
Elena Savva gene: DOK7 was added gene: DOK7 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to PMID: 31453852; 32360404 Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10 254300 Review for gene: DOK7 was set to GREEN Added comment: PMID: 31453852 - two adult patients with PTC variants and severe proximal muscle weakness with childhood onset. Condition is described as limb girdle myasthenia. Patient 1 had shoulder abduction and severe weakness of the pelvic girdle, patient 2 had muscle biopsy reveal muscle fibre II atrophy. PMID: 32360404 - one adult patient with late onset atypical limb-girdle pattern of muscle weakness. Biopsy of deltoid muscle shows no features of MD. PMID: 18626973 - 16 patients report proximal limb weakness, where 10 report neonatal onset. Sources: Expert list |
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