Predominantly Antibody Deficiency
Gene: TOP2B
Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Expert listCreated: 4 Apr 2020, 3:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Antibody deficiency; Recurrent infections; Facial dysmorphism; Limb anomalies
Publications
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
Gene: top2b has been classified as Green List (High Evidence).
Gene: top2b has been classified as Green List (High Evidence).
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