GENE REFERENCE / HGNC:23015

FAM20A

FAM20A golgi associated secretory pathway pseudokinase

protein-coding gene17q24.2Gene information

What does this gene do?

The FAM20A gene provides instructions for making a protein that is found in cells throughout the body. The FAM20A protein plays a role in the process of mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of strong and rigid bones. It is also involved in building tooth enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel strengthens teeth so they can withstand chewing and grinding. The FAM20A protein also plays a role in regulating the levels of calcium in the kidneys.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-12-03. Source review: 2025-12.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

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: 401
Submissions for variants in or overlapping this gene: 618
Submissions explicitly reporting this gene: 581
Alleles reported pathogenic / likely pathogenic: 53
VariationIDs with uncertain significance: 176
VariationIDs with conflicting classifications: 11

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 FAM20A?

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 53 alleles in FAM20A 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 FAM20A.

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

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