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| Congenital ophthalmoplegia v0.72 | MYF5 | Zornitza Stark Publications for gene: MYF5 were set to PMID: 29887215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.71 | MYF5 | Zornitza Stark Marked gene: MYF5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.71 | MYF5 | Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.71 | MYF5 | Zornitza Stark Classified gene: MYF5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.71 | MYF5 | Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.66 | MYF5 |
Shannon LeBlanc gene: MYF5 was added gene: MYF5 was added to Congenital ophthalmoplegia. Sources: 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, OMIM 61855 Review for gene: MYF5 was set to GREEN Added comment: congenital non-progressive external ophthalmoplegia and ptosis. Other features include hypoplastic or missing ribs with fusion anomalies. Torticollis and scoliosis develops during childhood. PMID 29887215: three unrelated consanguineous families with homozygous LOF mutations: Two Turkish families with a homozygous 10bp deletion (frameshift), predicted to undergo NMD. Two sisters from a Yemeni family with a homozygous missense variant in exon 1 - in vitro assays showed LOF for the missense variant. The clinical phenotype overlaps strikingly with several MYF5 knockout mouse models. (PMID: 15386014, 1423602, 9268580, 8918877). Sources: Literature |
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