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BabyScreen+ newborn screening v0.1714 SRP54 Zornitza Stark Tag treatable tag was added to gene: SRP54.
Tag immunological tag was added to gene: SRP54.
BabyScreen+ newborn screening v0.1507 SRP54 Seb Lunke Marked gene: SRP54 as ready
BabyScreen+ newborn screening v0.1507 SRP54 Seb Lunke Gene: srp54 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1507 SRP54 Seb Lunke reviewed gene: SRP54: Rating: ; Mode of pathogenicity: None; Publications: 20301722; Phenotypes: Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: None
BabyScreen+ newborn screening v0.0 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752