| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.139 | CCDC78 | Bryony Thompson Marked gene: CCDC78 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.139 | CCDC78 | Bryony Thompson Gene: ccdc78 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.139 | CCDC78 | Bryony Thompson Classified gene: CCDC78 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.139 | CCDC78 | Bryony Thompson Gene: ccdc78 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | CCDC78 |
Sangavi Sivagnanasundram gene: CCDC78 was added gene: CCDC78 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC78 were set to 22818856 Phenotypes for gene: CCDC78 were set to Centronuclear Myopathy (MIM#614807; MONDO: 0018947) Review for gene: CCDC78 was set to AMBER Added comment: PMID: 22818856 5 individuals in the same family with features of myopathy (Hypotonia, excessive fatigue, prominent myalgias) Mutations in this gene are not common for congenital myopathy. Sources: Other |
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