Activity

Filter

Cancel
Date Panel Item Activity
8 actions
BabyScreen+ newborn screening v1.114 ACADM Tommy Li Added phenotypes Medium chain acyl CoA dehydrogenase deficiency, MIM#201450 for gene: ACADM
BabyScreen+ newborn screening v0.1053 ACADM Zornitza Stark Tag metabolic tag was added to gene: ACADM.
BabyScreen+ newborn screening v0.270 ACADM Zornitza Stark Marked gene: ACADM as ready
BabyScreen+ newborn screening v0.270 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.270 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
BabyScreen+ newborn screening v0.270 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.199 ACADM John Christodoulou reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Medium chain acyl CoA dehydrogenase deficiency, MIM#201450