| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Groopman et al 2019 - Genes with diagnostic variants v0.4 | SMARCAL1 | Eleanor Williams reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | SMARCAL1 | Eleanor Williams Source Expert Review Red was added to SMARCAL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.2 | SMARCAL1 |
Eleanor Williams gene: SMARCAL1 was added gene: SMARCAL1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SMARCAL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SMARCAL1 were set to MIM 242900; Schimke immunoosseous dysplasia; Glomerulopathy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||