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| Predominantly Antibody Deficiency v0.93 | TOP2B | Zornitza Stark Phenotypes for gene: TOP2B were changed from Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.92 | TOP2B | Zornitza Stark edited their review of gene: TOP2B: Changed phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296, Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.92 | TOP2B | Zornitza Stark edited their review of gene: TOP2B: Changed phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 609296, Antibody deficiency, Recurrent infections, Facial dysmorphism, Limb anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.15 | TOP2B | Zornitza Stark Marked gene: TOP2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.15 | TOP2B | Zornitza Stark Gene: top2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.15 | TOP2B | Zornitza Stark Classified gene: TOP2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.15 | TOP2B | Zornitza Stark Gene: top2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.14 | TOP2B |
Zornitza Stark gene: TOP2B was added gene: TOP2B was added to Predominantly Antibody Deficiency. Sources: Expert list 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 Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies 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 list |
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