Genomics England
GMS Panels
Panels
Genes and Entities

BTK

Bruton tyrosine kinase
OMIM: 300300
PanelMode of inheritanceDetails
3 panels
Green
in Agammaglobulinaemia with absent BTK expression
R-numbers: R233
Signed-off version 1.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Agammaglobulinemia, X-linked 1, OMIM:300755, Isolated growth hormone deficiency, type III, with agammaglobulinemia, OMIM:307200, Bruton-type agammaglobulinemia, MONDO:0010421, isolated growth hormone deficiency type III, MONDO:0010615
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 4.10
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Isolated growth hormone deficiency, type III, with agammaglobulinemia, OMIM:307200
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.91
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Agammaglobulinemia and isolated hormone deficiency, Agammaglobulinemia, X-linked, Agammaglobulinemia, X-linked 1, 300755, Agammaglobulinemia and isolated hormone deficiency, 307200, Agammaglobulinemia, X-linked 1 (XLA), Agammaglobulinemia, agammaglobulinaemia, CVID, Severe bacterial infections, normal numbers of pro-B cells, Predominantly Antibody Deficiencies