Genomics England
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Panels
Genes and Entities

BLNK

B-cell linker
OMIM: 604515
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Agammaglobulinemia 4, 613502, agammaglobulinaemia with absent B cells, Agammaglobulinemia 4, Agammaglobulinemia, Severe bacterial infections, normal numbers of pro-B cells, Predominantly Antibody Deficiencies