GENE REFERENCE / HGNC:23109

FAT4

FAT atypical cadherin 4

protein-coding gene4q28.1Gene information

What does this gene do?

The FAT4 gene provides instructions for making a protein that plays an important role in the development of the brain, kidneys, and heart. The FAT4 protein is also important for the proper development and function of the lymphatic system, which is a network of vessels that transport white blood cells (lymphocytes), nutrients, and proteins in a fluid called lymph.

Research suggests that the FAT4 protein is involved in determining the position of cells and their components within various tissues. Proper cell positioning within a tissue allows cells to coordinate their activity and helps determine tissue structure and function.

The FAT4 protein may also act as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-03-20. Source review: 2026-03.

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
FAT4-related neurodevelopmental disorderMONDO:0100603 · Evaluated 2025-02-20	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: 3,658
Submissions for variants in or overlapping this gene: 5,658
Submissions explicitly reporting this gene: 5,580
Alleles reported pathogenic / likely pathogenic: 75
VariationIDs with uncertain significance: 1,974
VariationIDs with conflicting classifications: 140

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 FAT4?

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 75 alleles in FAT4 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 FAT4.

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

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