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Bone Marrow Failure v1.91 | ERCC4 | Santosh Varughese reviewed gene: ERCC4: 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: 23623386; Phenotypes: Fanconi anemia, complementation group Q; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.91 | ERCC4 | Zornitza Stark Marked gene: ERCC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.91 | ERCC4 | Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.91 | ERCC4 | Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.90 | ERCC4 | Zornitza Stark Publications for gene: ERCC4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.89 | ERCC4 | Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.88 | ERCC4 | Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.0 | ERCC4 |
Zornitza Stark gene: ERCC4 was added gene: ERCC4 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERCC4 was set to Unknown |