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BabyScreen+ newborn screening v0.1446 RMRP Zornitza Stark Marked gene: RMRP as ready
BabyScreen+ newborn screening v0.1446 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1446 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from Cartilage-hair hypoplasia to Cartilage-hair hypoplasia MIM#250250
BabyScreen+ newborn screening v0.1445 RMRP Zornitza Stark Tag for review tag was added to gene: RMRP.
Tag treatable tag was added to gene: RMRP.
Tag immunological tag was added to gene: RMRP.
BabyScreen+ newborn screening v0.1445 RMRP Zornitza Stark reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cartilage-hair hypoplasia MIM#250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia