| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 | CANT1 | Tiong Tan Classified gene: CANT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 | CANT1 | Tiong Tan Gene: cant1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.2 | CANT1 | Tiong Tan Marked gene: CANT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.2 | CANT1 | Tiong Tan Gene: cant1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.2 | CANT1 | Tiong Tan reviewed gene: CANT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28742282; Phenotypes: Multiple epiphyseal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple epiphyseal dysplasia and pseudoachondroplasia v0.0 | CANT1 |
Tiong Tan gene: CANT1 was added gene: CANT1 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CANT1 were set to multiple epiphyseal dysplasia type 7, 617719.; Desbuquois dysplasia 1 251450 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||