GENE REFERENCE / HGNC:17582

KAT6B

lysine acetyltransferase 6B

protein-coding gene10q22.2Gene information

What does this gene do?

The KAT6B gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to particular locations on histones, histone acetyltransferases control the activity of certain genes.

Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It is active in cells and tissues throughout the body, where it interacts with many other proteins. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-12. Source review: 2013-02.

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
KAT6B-related multiple congenital anomalies syndromeMONDO:0036042 · Evaluated 2023-01-04	Autosomal dominant	DefinitiveIntellectual Disability and Autism Gene Curation Expert Panel
RASopathyMONDO:0021060 · Evaluated 2019-02-04	Autosomal dominant	DisputedRASopathy 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: 1,858
Submissions for variants in or overlapping this gene: 2,788
Submissions explicitly reporting this gene: 2,725
Alleles reported pathogenic / likely pathogenic: 189
VariationIDs with uncertain significance: 794
VariationIDs with conflicting classifications: 145

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 KAT6B?

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 189 alleles in KAT6B 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 KAT6B.

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

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