| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v1.27 | COL9A2 | Ain Roesley Marked gene: COL9A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.27 | COL9A2 | Ain Roesley Gene: col9a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.27 | COL9A2 | Ain Roesley Classified gene: COL9A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.27 | COL9A2 | Ain Roesley Gene: col9a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.26 | COL9A2 |
Ain Roesley gene: COL9A2 was added gene: COL9A2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: COL9A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL9A2 were set to 20508815; 20358595 Phenotypes for gene: COL9A2 were set to Epiphyseal dysplasia, multiple, 2 MIM#600204 Review for gene: COL9A2 was set to AMBER gene: COL9A2 was marked as current diagnostic Added comment: not a common feature. only 1 paper found in pubmed and google (search terms COL9A2 AND myopathy) Amber so as not to miss a diagnosis PMID: 20358595 2 families with multiple affecteds but only 1 from each reporting muscle weakness PMID: 20508815 additional individual from European Skeletal Dysplasia Network Sources: Literature |
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