GENE REFERENCE / HGNC:29331

EPG5

ectopic P-granules 5 autophagy tethering factor

protein-coding gene18q12.3-q21.1Gene information

What does this gene do?

The EPG5 gene provides instructions for making a protein that is involved in a cellular process called autophagy. This process recycles worn-out or unnecessary cell parts and breaks down certain proteins when they are no longer needed. Autophagy also helps cells use materials most efficiently when energy demands are high. During autophagy, materials to be recycled or removed are isolated in compartments called autophagosomes. The autophagosomes are then transported to cell structures called lysosomes that break down the materials. The EPG5 protein is important for the interaction between autophagosomes and lysosomes that allows the transfer of materials.

In addition to its role in autophagy, the EPG5 protein aids in the cell's ability to recognize infection from foreign invaders such as bacteria and viruses. The protein transports molecules from these invaders within cells so they can interact with immune system proteins that trigger reactions to fight the infection.

Source: MedlinePlus, National Library of Medicine. Source publication: 2022-07-05. Source review: 2018-08.

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
Vici syndromeMONDO:0009452 · Evaluated 2024-06-07	Autosomal recessive	DefinitiveSCID-CID 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: 2,883
Submissions for variants in or overlapping this gene: 3,869
Submissions explicitly reporting this gene: 3,662
Alleles reported pathogenic / likely pathogenic: 249
VariationIDs with uncertain significance: 1,057
VariationIDs with conflicting classifications: 49

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 EPG5?

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 249 alleles in EPG5 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 EPG5.

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

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