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BabyScreen+ newborn screening v1.114 TNFRSF11A Tommy Li Added phenotypes Osteopetrosis, autosomal recessive 7 - MIM# 612301 for gene: TNFRSF11A
Publications for gene TNFRSF11A were updated from 36031188; 35812760 to 35812760; 36031188
BabyScreen+ newborn screening v0.1190 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
BabyScreen+ newborn screening v0.1190 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1190 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
BabyScreen+ newborn screening v0.1189 TNFRSF11A Zornitza Stark Tag treatable tag was added to gene: TNFRSF11A.
Tag skeletal tag was added to gene: TNFRSF11A.
BabyScreen+ newborn screening v0.1154 TNFRSF11A Lilian Downie edited their review of gene: TNFRSF11A: Changed rating: GREEN
BabyScreen+ newborn screening v0.1154 TNFRSF11A Lilian Downie changed review comment from: strong gene disease association
Infant onset osteopetrosis and immunodeficiency
No treatment



NB AD phenotype has later onset; to: strong gene disease association
Infant onset osteopetrosis and immunodeficiency
Treatment bone marrow transplant



NB AD phenotype has later onset
BabyScreen+ newborn screening v0.1154 TNFRSF11A Lilian Downie reviewed gene: TNFRSF11A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36031188, PMID: 35812760; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301