Activity
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6 actions
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 | FLNC | Zornitza Stark Marked gene: FLNC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 | FLNC | Zornitza Stark Added comment: Comment when marking as ready: Causes a range of conditions affecting muscle, phenotypic overlap. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 | FLNC | Zornitza Stark Gene: flnc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 | FLNC | Zornitza Stark Classified gene: FLNC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.48 | FLNC | Zornitza Stark Gene: flnc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | FLNC |
Elena Savva gene: FLNC was added gene: FLNC was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FLNC were set to PMID: 29858533 Phenotypes for gene: FLNC were set to Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524 Mode of pathogenicity for gene: FLNC was set to Other Review for gene: FLNC was set to GREEN Added comment: Myofibrillar myopathy - LOF Distal myopathy - GOF Cardiomyopathy, familial hypertrophic - LOF PTCs PMID: 29858533 - 4 patients with both restrictive cardiomyopathy and congenital myopathy. 4/4 displayed limb girdle muscle weakness, where 1/4 was mild. 3/4 also presented with arthrogryposis Sources: Expert list |
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