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Bone Marrow Failure v1.91 | BRCA2 | Santosh Varughese reviewed gene: BRCA2: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16825431; Phenotypes: Fanconi anaemia, complementation group D1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.232 | BRCA2 | Zornitza Stark Marked gene: BRCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.232 | BRCA2 | Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.232 | BRCA2 | Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Fanconi anaemia, complementation group D1, MIM# 605724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.231 | BRCA2 | Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.230 | BRCA2 | Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.0 | BRCA2 |
Zornitza Stark gene: BRCA2 was added gene: BRCA2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BRCA2 was set to Unknown |