Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Wilms Tumour Predisposition v0.3 | BRCA2 | Zornitza Stark Marked gene: BRCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.3 | BRCA2 | Zornitza Stark Added comment: Comment when marking as ready: Evidence for WT predisposition in Fanconi anaemia caused by bi-allelic BRCA2 variants. Note only a single family where heterozygous variant reported, so insufficient evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.3 | BRCA2 | Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.3 | BRCA2 | Zornitza Stark Publications for gene: BRCA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.2 | BRCA2 | Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.1 | BRCA2 | Chris Richmond reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15689453, 16857697; Phenotypes: Fanconi anemia, complementation group D1 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Wilms Tumour Predisposition v0.0 | BRCA2 |
Zornitza Stark gene: BRCA2 was added gene: BRCA2 was added to Wilms Tumour Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BRCA2 was set to Unknown |