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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. |
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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 |