GENE REFERENCE / HGNC:1133

BTK

Bruton tyrosine kinase

protein-coding geneXq22.1Gene information

What does this gene do?

The BTK gene provides instructions for making a protein called Bruton tyrosine kinase (BTK), which is essential for the development and maturation of B cells. B cells are specialized white blood cells that help protect the body against infection. These cells can mature into cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. The BTK protein transmits important chemical signals that instruct B cells to mature and produce antibodies.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2012-02.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
isolated growth hormone deficiency type IIIMONDO:0010615 · Evaluated 2020-11-17	X-linked	DisputedAntibody Deficiencies Gene Curation Expert Panel
Bruton-type agammaglobulinemiaMONDO:0010421 · Evaluated 2020-10-20	X-linked	DefinitiveAntibody Deficiencies Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,184
Submissions for variants in or overlapping this gene: 1,600
Submissions explicitly reporting this gene: 1,379
Alleles reported pathogenic / likely pathogenic: 388
VariationIDs with uncertain significance: 217
VariationIDs with conflicting classifications: 24

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about BTK?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 388 alleles in BTK reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in BTK.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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