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| Congenital myopathy v2.56 | MYF5 | Ivone Leong reviewed gene: MYF5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29887215; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.29 | MYF5 | Ivone Leong Phenotypes for gene: MYF5 were changed from OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.5 | MYF5 | Zornitza Stark reviewed gene: MYF5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ophthalmoplegia, external, with rib and vertebral anomalies 618155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.228 | MYF5 | Louise Daugherty Classified gene: MYF5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.228 | MYF5 | Louise Daugherty Added comment: Comment on list classification: New Amber gene suggested by Anna Sarkozy (Great Ormond Street Hospital) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.228 | MYF5 | Louise Daugherty Gene: myf5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.227 | MYF5 | Louise Daugherty Publications for gene: MYF5 were set to PMID: 29887215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.223 | MYF5 |
Anna Sarkozy gene: MYF5 was added gene: MYF5 was added to Congenital myopathy. Sources: Expert list,Literature Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYF5 were set to PMID: 29887215 Phenotypes for gene: MYF5 were set to OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES Mode of pathogenicity for gene: MYF5 was set to Other Review for gene: MYF5 was set to AMBER Added comment: Sources: Expert list, Literature |
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