| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.307 | MYH3 | Bryony Thompson Marked gene: MYH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.307 | MYH3 | Bryony Thompson Gene: myh3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.307 | MYH3 | Bryony Thompson Classified gene: MYH3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.307 | MYH3 | Bryony Thompson Gene: myh3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.306 | MYH3 |
Bryony Thompson gene: MYH3 was added gene: MYH3 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: MYH3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH3 were set to 16642020; 29805041 Phenotypes for gene: MYH3 were set to Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469 Review for gene: MYH3 was set to GREEN gene: MYH3 was marked as current diagnostic Added comment: Skeletal dysplasias are part of the spectrum MYH3-related conditions. Sources: Literature |
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