| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Muscular dystrophy and myopathy_Paediatric v1.48 | CHRND | Bryony Thompson Marked gene: CHRND as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.48 | CHRND | Bryony Thompson Gene: chrnd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.48 | CHRND |
Bryony Thompson gene: CHRND was added gene: CHRND was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CHRND was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHRND were set to 38982518 Phenotypes for gene: CHRND were set to congenital myopathy MONDO:0019952 Review for gene: CHRND was set to RED gene: CHRND was marked as current diagnostic Added comment: Single case with congenital centronuclear myopathy reported Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||