Genomics England
GMS Panels
Panels
Genes and Entities

TOP2B

DNA topoisomerase II beta
OMIM: 126431
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Recurrent infections, facial dysmorphism, limb anomalies, Predominantly Antibody Deficiencies, Hoffman syndrome/TOP2B deficiency