Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aortopathy_Connective Tissue Disorders v1.72 | CBS | Zornitza Stark Tag treatable tag was added to gene: CBS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.43 | CBS | Zornitza Stark Marked gene: CBS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.43 | CBS | Zornitza Stark Gene: cbs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.43 | CBS | Zornitza Stark Phenotypes for gene: CBS were changed from to Homocystinuria (MIM# 236200) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.42 | CBS | Zornitza Stark Publications for gene: CBS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.41 | CBS | Zornitza Stark Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.40 | CBS | Zornitza Stark reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.26 | CBS | Ain Roesley reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 1301198, 10408774, 7762555, 12815602, 16307898, 25455305, 26667307, 29508359; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aortopathy_Connective Tissue Disorders v0.0 | CBS |
Zornitza Stark gene: CBS was added gene: CBS was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CBS was set to Unknown |