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Fetal anomalies v0.215 TOP2B Zornitza Stark Marked gene: TOP2B as ready
Fetal anomalies v0.215 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Fetal anomalies v0.215 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Fetal anomalies v0.215 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Fetal anomalies v0.214 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
Review for gene: TOP2B was set to GREEN
Added comment: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Expert Review