| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v1.25 | COL9A3 | Ain Roesley Marked gene: COL9A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.25 | COL9A3 | Ain Roesley Gene: col9a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.25 | COL9A3 | Ain Roesley Classified gene: COL9A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.25 | COL9A3 | Ain Roesley Gene: col9a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.24 | COL9A3 |
Ain Roesley gene: COL9A3 was added gene: COL9A3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL9A3 were set to 10655510 Phenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969 Review for gene: COL9A3 was set to AMBER gene: COL9A3 was marked as current diagnostic Added comment: Not a common feature of MED, only one paper found in pubmed (search terms COL9A3 AND myopathy). Amber so as not to miss a diagnosis PMID: 10655510 1x male with proximal muscle weakness Sources: Literature |
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