GENE REFERENCE / HGNC:22962

MED13L

mediator complex subunit 13L

protein-coding gene12q24.21Gene information

What does this gene do?

The MED13L gene provides instructions for making a protein that is one piece (subunit) of a group of proteins known as the mediator complex. This complex regulates the activity (transcription) of genes. Transcription is the first step in the process by which information stored in a gene's DNA is used to build proteins.

The mediator complex physically links the proteins that can turn genes on, called transcription factors, with the enzyme that carries out transcription, called RNA polymerase II. Once transcription factors are attached to RNA polymerase II, transcription begins.

Researchers believe that as part of the mediator complex, the MED13L protein is involved in many aspects of early development, including development of the heart, nerve cells (neurons) in the brain, and structures in the face. The mediator complex plays a role in several chemical signaling pathways within cells. These pathways help direct a broad range of cellular activities, such as cell growth, cell movement (migration), and the process by which cells mature to carry out specific functions (differentiation).

Source: MedlinePlus, National Library of Medicine. Source publication: 2022-07-05. Source review: 2019-05.

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
syndromic intellectual disabilityMONDO:0000508 · Evaluated 2021-04-21	Autosomal dominant	DefinitiveIntellectual Disability and Autism Gene Curation Expert Panel
congenital heart diseaseMONDO:0005453 · Evaluated 2024-02-12	Autosomal dominant	LimitedCongenital Heart Disease 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: 1,892
Submissions for variants in or overlapping this gene: 2,570
Submissions explicitly reporting this gene: 2,447
Alleles reported pathogenic / likely pathogenic: 366
VariationIDs with uncertain significance: 641
VariationIDs with conflicting classifications: 81

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 MED13L?

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 366 alleles in MED13L 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 MED13L.

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

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