Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Bone Marrow Failure v1.91 FANCB Santosh Varughese reviewed gene: FANCB: Rating: GREEN; 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: 15502827; Phenotypes: Fanconi anaemia, complementation group B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v0.252 FANCB Zornitza Stark Marked gene: FANCB as ready
Bone Marrow Failure v0.252 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Bone Marrow Failure v0.252 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514
Bone Marrow Failure v0.251 FANCB Zornitza Stark Publications for gene: FANCB were set to
Bone Marrow Failure v0.250 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.249 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCB was set to Unknown