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BabyScreen+ newborn screening v0.1710 MTRR Zornitza Stark Tag treatable tag was added to gene: MTRR.
Tag metabolic tag was added to gene: MTRR.
BabyScreen+ newborn screening v0.383 MTRR Zornitza Stark Marked gene: MTRR as ready
BabyScreen+ newborn screening v0.383 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.383 MTRR Zornitza Stark Publications for gene: MTRR were set to
BabyScreen+ newborn screening v0.382 MTRR Zornitza Stark reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.274 MTRR David Amor reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25526710; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria, MIM#236270