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| Skeletal dysplasia v1.148 | MYF5 | Zornitza Stark Marked gene: MYF5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.148 | MYF5 | Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.148 | MYF5 | Zornitza Stark Mode of inheritance for gene: MYF5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | MYF5 |
Zornitza Stark changed review comment from: MYF5 variants are associated with skeletal malformations, including congenital scoliosis and external ophthalmoplegia with rib and vertebral anomalies (EORVA), 5 families reported. Sources: Literature; to: MYF5 variants are associated with skeletal malformations, including congenital scoliosis and external ophthalmoplegia with rib and vertebral anomalies (EORVA), 5 families reported and a mouse model. Sources: Literature |
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| Skeletal dysplasia v1.147 | MYF5 | Zornitza Stark edited their review of gene: MYF5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | MYF5 | Zornitza Stark Classified gene: MYF5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | MYF5 | Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | MYF5 |
Zornitza Stark gene: MYF5 was added gene: MYF5 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: MYF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYF5 were set to 38927634; 35186005; 32815649; 29887215 Phenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, MONDO:0032565 Review for gene: MYF5 was set to GREEN Added comment: MYF5 variants are associated with skeletal malformations, including congenital scoliosis and external ophthalmoplegia with rib and vertebral anomalies (EORVA), 5 families reported. Sources: Literature |
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