GENE REFERENCE / HGNC:11411

CDKL5

cyclin dependent kinase like 5

protein-coding geneXp22.13Gene information

What does this gene do?

The CDKL5 gene provides instructions for making a protein that is found in cells and tissues throughout the body. However, it is most active in the brain and is essential for normal brain development and function. There are five versions (isoforms) of the CDKL5 protein. These isoforms vary in length and in the tissues in which they are most abundant.

Studies suggest that the CDKL5 protein is involved in the formation, growth, and movement (migration) of nerve cells (neurons), as well as cell division. It also plays a role in the transmission of chemical signals at the connections (synapses) between neurons.

The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. It is possible that one of the proteins targeted by the CDKL5 protein is MeCP2, which is produced from the MECP2 gene. The MeCP2 protein plays important roles in the function of neurons and other brain cells and in the maintenance of neuronal synapses. Researchers have not determined which other proteins are targeted by the CDKL5 protein.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-03-20. Source review: 2017-11.

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
CDKL5 disorderMONDO:0100039 · Evaluated 2018-07-02	X-linked	DefinitiveRett and Angelman-like Disorders 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: 2,551
Submissions for variants in or overlapping this gene: 4,406
Submissions explicitly reporting this gene: 3,178
Alleles reported pathogenic / likely pathogenic: 928
VariationIDs with uncertain significance: 559
VariationIDs with conflicting classifications: 38

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 CDKL5?

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 928 alleles in CDKL5 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 CDKL5.

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

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