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| Muscular dystrophy and myopathy_Paediatric v0.130 | ACTN2 | Bryony Thompson Classified gene: ACTN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.130 | ACTN2 | Bryony Thompson Gene: actn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.129 | ACTN2 | Bryony Thompson Classified gene: ACTN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.129 | ACTN2 | Bryony Thompson Gene: actn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | ACTN2 | Bryony Thompson Marked gene: ACTN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | ACTN2 | Bryony Thompson Gene: actn2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | ACTN2 | Bryony Thompson reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30701273; Phenotypes: Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | ACTN2 |
Sangavi Sivagnanasundram gene: ACTN2 was added gene: ACTN2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTN2 were set to 30701273 Phenotypes for gene: ACTN2 were set to Congenital Myopathy 8 (MIM#618654; MONDO: 0032852) Penetrance for gene: ACTN2 were set to unknown Review for gene: ACTN2 was set to GREEN Added comment: PMID: 30701273 2 unrelated individuals with congenital myopathy plus an in vivo zebrafish model showed a loss in protein function resulting in zebrafish embryo hatching defect and impaired motor function. - Age of onset in both individuals was in the first decade of life Sources: Other |
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