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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 |
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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. |
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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 |
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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 |