| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.14728 | FXR1 | Zornitza Stark Marked gene: FXR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14728 | FXR1 | Zornitza Stark Gene: fxr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12877 | FXR1 | Bryony Thompson Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy; multiminicore myopathy MONDO:0018948 to Congenital multi-minicore myopathy; myopathy, congenital proximal, with minicore lesions MONDO:0032937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12876 | FXR1 | Bryony Thompson Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy to Congenital multi-minicore myopathy; multiminicore myopathy MONDO:0018948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1437 | FXR1 | Bryony Thompson Classified gene: FXR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1437 | FXR1 | Bryony Thompson Added comment: Comment on list classification: Only two families, but a lot of functional supporting evidence including a mouse model. Pathogenic variants likely to be found in exon 15 of the skeletal muscle isoform, specifically. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1437 | FXR1 | Bryony Thompson Gene: fxr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1436 | FXR1 |
Bryony Thompson gene: FXR1 was added gene: FXR1 was added to Mendeliome. Sources: NHS GMS Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXR1 were set to 30770808 Phenotypes for gene: FXR1 were set to Congenital multi-minicore myopathy Review for gene: FXR1 was set to GREEN Added comment: Two unrelated families and a mouse model with non-lethal myopathy phenotype. Sources: NHS GMS |
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