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Bone Marrow Failure v1.91 BRCA1 Santosh Varughese reviewed gene: BRCA1: 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: 23269703, 29133208, 25472942, 29712865; Phenotypes: Fanconi anemia, complementation group S; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Classified gene: BRCA1 as Green List (high evidence)
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.47 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM# 617883
Review for gene: BRCA1 was set to GREEN
Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype.
Sources: Expert list