Activity

Filter

Cancel
Date Panel Item Activity
9 actions
BabyScreen+ newborn screening v1.114 OSTM1 Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 5, MIM#259720 for gene: OSTM1
BabyScreen+ newborn screening v0.676 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
BabyScreen+ newborn screening v0.676 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.676 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis to Osteopetrosis, autosomal recessive 5, MIM#259720
BabyScreen+ newborn screening v0.675 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
BabyScreen+ newborn screening v0.674 OSTM1 Zornitza Stark Classified gene: OSTM1 as Red List (low evidence)
BabyScreen+ newborn screening v0.674 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.670 OSTM1 David Amor reviewed gene: OSTM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34011644; Phenotypes: 259720 Osteopetrosis, autosomal recessive 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis