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| Congenital myopathy v3.42 | FXR1 | Arina Puzriakova Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy; ?Myopathy, congenital proximal, with minicore lesions #618823; ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822 to Myopathy, congenital proximal, with minicore lesions, OMIM:618823; Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.11 | FXR1 | Arina Puzriakova Publications for gene: FXR1 were set to 30770808 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.5 | FXR1 | Eleanor Williams Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy to Congenital multi-minicore myopathy; ?Myopathy, congenital proximal, with minicore lesions #618823; ?Myopathy, congenital, with respiratory insufficiency and bone fractures #618822 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.226 | FXR1 | Louise Daugherty Classified gene: FXR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.226 | FXR1 | Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.226 | FXR1 | Louise Daugherty Gene: fxr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.223 | FXR1 | Anna Sarkozy reviewed gene: FXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30770808; Phenotypes: congenital multi-minicore myopathy.; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.197 | FXR1 | Louise Daugherty Classified gene: FXR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.197 | FXR1 | Louise Daugherty Gene: fxr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.195 | FXR1 |
Louise Daugherty gene: FXR1 was added gene: FXR1 was added to Congenital myopathy. Sources: Expert Review 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 AMBER Added comment: New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel Sources: Expert Review |
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