| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Skeletal dysplasia v0.444 | DDX58 | Zornitza Stark Marked gene: DDX58 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.444 | DDX58 | Zornitza Stark Gene: ddx58 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.444 | DDX58 |
Zornitza Stark changed review comment from: Comment when marking as ready: New HGNC approved name is RIGI.; to: New HGNC approved name is RIGI. Syndrome with significant skeletal involvement. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.444 | Zornitza Stark Copied gene DDX58 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.444 | DDX58 |
Zornitza Stark gene: DDX58 was added gene: DDX58 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services new gene name tags were added to gene: DDX58. Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX58 were set to 25620203; 30574673; 33495304 Phenotypes for gene: DDX58 were set to Singleton-Merten syndrome 2, MIM# 616298 Mode of pathogenicity for gene: DDX58 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||