| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.153 | FXR1 | Bryony Thompson Marked gene: FXR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.153 | FXR1 | Bryony Thompson Gene: fxr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.153 | FXR1 | Bryony Thompson Classified gene: FXR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.153 | FXR1 | Bryony Thompson Gene: fxr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | FXR1 |
Sangavi Sivagnanasundram gene: FXR1 was added gene: FXR1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXR1 were set to 30770808; 35393337 Phenotypes for gene: FXR1 were set to Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823; MONDO:0032937) Review for gene: FXR1 was set to GREEN Added comment: Variable age of onset - typically early to late childhood PMID: 30770808 4 individuals from 2 unrelated families (3 individuals reported from the same family) present with phenotypic features of myopathy such as hypotonia. PMID: 35393337 8 individuals from 4 unrelated families identified with bi-allelic variants with myopathy phenotypes Sources: Other |
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