Activity

Filter

Cancel
Date Panel Item Activity
8 actions
BabyScreen+ newborn screening v0.1710 MAN2B1 Zornitza Stark Tag metabolic tag was added to gene: MAN2B1.
BabyScreen+ newborn screening v0.719 MAN2B1 John Christodoulou reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31222755, PMID: 31241255; Phenotypes: ID, coarse facial features, deafness, dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.258 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
BabyScreen+ newborn screening v0.258 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.258 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha to Mannosidosis, alpha-, types I and II, MIM# 248500
BabyScreen+ newborn screening v0.257 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
BabyScreen+ newborn screening v0.229 MAN2B1 David Amor reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-mannosidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha