| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Marked gene: PYROXD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Gene: pyroxd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Classified gene: PYROXD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease validity classification by ClinGen Congenital Myopathy VCEP - reviewed 05/11/2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Gene: pyroxd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.193 | PYROXD1 |
Bryony Thompson gene: PYROXD1 was added gene: PYROXD1 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 30345904; 30515627; 27745833 Phenotypes for gene: PYROXD1 were set to Myofibrillar myopathy 8 MONDO:0014993 gene: PYROXD1 was marked as current diagnostic |
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