Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BabyScreen+ newborn screening v0.1710 | PALB2 |
Zornitza Stark Tag treatable tag was added to gene: PALB2. Tag haematological tag was added to gene: PALB2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.867 | PALB2 | Zornitza Stark Tag for review was removed from gene: PALB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.857 | PALB2 | Zornitza Stark Marked gene: PALB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.857 | PALB2 | Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.857 | PALB2 | Zornitza Stark reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, OMIM 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.744 | PALB2 | Zornitza Stark Tag for review tag was added to gene: PALB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.719 | PALB2 | David Amor reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group N, OMIM 610832 (AR), Breast cancer, susceptibility to (OMIM 114480) (AD); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.0 | PALB2 |
Zornitza Stark gene: PALB2 was added gene: PALB2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PALB2 were set to 17200671 Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, MIM# 610832 |