Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v0.216 LAMTOR2 Zornitza Stark Marked gene: LAMTOR2 as ready
BabyScreen+ newborn screening v0.216 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.216 LAMTOR2 Zornitza Stark Publications for gene: LAMTOR2 were set to
BabyScreen+ newborn screening v0.215 LAMTOR2 Zornitza Stark Classified gene: LAMTOR2 as Red List (low evidence)
BabyScreen+ newborn screening v0.215 LAMTOR2 Zornitza Stark Gene: lamtor2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.199 LAMTOR2 David Amor reviewed gene: LAMTOR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 17195838; Phenotypes: Immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 LAMTOR2 Zornitza Stark gene: LAMTOR2 was added
gene: LAMTOR2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMTOR2 were set to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798