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| Congenital fibrosis of the extraocular muscles v1.16 | MYF5 |
Ivone Leong Tag watchlist was removed from gene: MYF5. Tag Q4_23_promote_green tag was added to gene: MYF5. Tag Q4_23_NHS_review tag was added to gene: MYF5. |
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| Congenital fibrosis of the extraocular muscles v1.16 | MYF5 | Ivone Leong commented on gene: MYF5: There is now enough evidence for this gene to be promoted to Green status. This gene should be promoted to Green at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.16 | MYF5 | Ivone Leong Publications for gene: MYF5 were set to 29887215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.15 | MYF5 | Hannah Knight reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35186005; Phenotypes: Ophthalmoplegia, external, with rib and vertebral anomalies, 618155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.12 | MYF5 | Ivone Leong Tag watchlist tag was added to gene: MYF5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.12 | MYF5 |
Ivone Leong changed review comment from: PMID:29887215. 3 families and 5 patients. All patients have external ophthalmoplegia, 3/5 torticollis, 4/5 scoliosis, 0/5 hypotonia/weakness. After consulting the Genomics England Clinical Team it was decided to leave this gene as Amber on this panel.; to: PMID:29887215. 3 families and 5 patients. 2 families from the same village Turkey with the same variant (c.23_32delAGTTCTCACC) and 1 family from Yemen (c.283C>T). All patients have external ophthalmoplegia, 3/5 torticollis, 4/5 scoliosis, 0/5 hypotonia/weakness. After consulting the Genomics England Clinical Team it was decided that this gene is appropriate for the Congenital fibrosis of the extraocular muscles panel. This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). As 2 of the cases could be due to founder effect (Turkish families) and only 1 other case, there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating until more evidence is available. |
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| Congenital fibrosis of the extraocular muscles v1.12 | MYF5 | Ivone Leong Entity copied from Congenital myopathy v2.56 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v1.12 | MYF5 |
Ivone Leong gene: MYF5 was added gene: MYF5 was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Amber,Expert list,Literature Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYF5 were set to 29887215 Phenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 Mode of pathogenicity for gene: MYF5 was set to Other |
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