Activity

Filter

Cancel
Date Panel Item Activity
10 actions
BabyScreen+ newborn screening v1.114 MPI Tommy Li Added phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 for gene: MPI
Publications for gene MPI were updated from 32266963; 19101627 to 19101627; 32266963
BabyScreen+ newborn screening v0.1710 MPI Zornitza Stark Tag metabolic tag was added to gene: MPI.
BabyScreen+ newborn screening v0.719 MPI John Christodoulou reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, PMID: 19101627; Phenotypes: hyperinsulinism, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.368 MPI Zornitza Stark Marked gene: MPI as ready
BabyScreen+ newborn screening v0.368 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.368 MPI Zornitza Stark Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation 1b to Congenital disorder of glycosylation, type Ib, MIM# 602579
BabyScreen+ newborn screening v0.367 MPI Zornitza Stark Publications for gene: MPI were set to
BabyScreen+ newborn screening v0.366 MPI Zornitza Stark reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.274 MPI David Amor reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, 19101627; Phenotypes: Congenital disorder of glycosylation 1b; Mode of inheritance: None
BabyScreen+ newborn screening v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b