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BabyScreen+ newborn screening v0.1396 RPS17 Zornitza Stark Marked gene: RPS17 as ready
BabyScreen+ newborn screening v0.1396 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1396 RPS17 Zornitza Stark Tag treatable tag was added to gene: RPS17.
Tag haematological tag was added to gene: RPS17.
BabyScreen+ newborn screening v0.1396 RPS17 Zornitza Stark edited their review of gene: RPS17: Changed phenotypes: Diamond-Blackfan anaemia 4, MIM# 612527
BabyScreen+ newborn screening v0.1396 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia, MIM#612527