BTK - Gene browser

BTK

Bruton tyrosine kinase

HCNC Approved Symbol: BTK (HGNC:1133)
Genomic Coordinates: 23:101,349,450 - 101,390,796 (Xq22.1)
Synonyms: ATK, XLA, PSCTK1, AGMX1, IMD1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

21Patients

In total, 21 patients were diagnosed with a variant in the BTK gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

021
Patient count

Agammaglobulinaemia: 9 (42.9%)
Patient Count: 9 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (42.9%)
Hypogammaglobulinemia: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Immunodeficiency: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)
Agammaglobulinemia: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)
Severe b lymphocytopenia: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)