Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital Heart Defect v0.206 | NOTCH2 | Zornitza Stark Marked gene: NOTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Heart Defect v0.206 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Heart Defect v0.206 | NOTCH2 | Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Heart Defect v0.205 | NOTCH2 | Zornitza Stark Publications for gene: NOTCH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Heart Defect v0.204 | NOTCH2 | Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Heart Defect v0.200 | NOTCH2 | Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Heart Defect v0.0 | NOTCH2 |
Zornitza Stark gene: NOTCH2 was added gene: NOTCH2 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOTCH2 was set to Unknown |