GENE REFERENCE / HGNC:6211

ANOS1

anosmin 1

protein-coding geneXp22.31Gene information

What does this gene do?

The ANOS1 gene, also known as KAL1, provides instructions for making a protein called anosmin-1. This protein is involved in development before birth. Anosmin-1 is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Anosmin-1 is active in many parts of the developing embryo, including the respiratory tract, kidneys, digestive system, and certain regions of the brain.

Researchers are working to determine the functions of anosmin-1. They have discovered that, in the developing brain, this protein is involved in the movement (migration) of nerve cells and the outgrowth of axons, which are specialized extensions of nerve cells that transmit nerve impulses. The protein also plays a role in regulating contact between nerve cells (cell adhesion).

Anosmin-1 appears to help control the growth and migration of a group of nerve cells that are specialized to process the sense of smell (olfactory neurons). These nerve cells originate in the developing nose and then migrate together to a structure in the front of the brain called the olfactory bulb, which is critical for the perception of odors. Studies suggest that anosmin-1 is also involved in the migration of neurons that produce a hormone called gonadotropin-releasing hormone (GnRH). Like olfactory neurons, GnRH-producing neurons migrate from the developing nose to the front of the brain. GnRH controls the production of several hormones that direct sexual development before birth and during puberty. These hormones are important for the normal function of the ovaries in women and testes in men.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2016-12.

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
hypogonadotropic hypogonadism 1 with or without anosmiaMONDO:0010635 · Evaluated 2022-05-17	X-linked	DefinitiveSyndromic 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: 781
Submissions for variants in or overlapping this gene: 1,005
Submissions explicitly reporting this gene: 697
Alleles reported pathogenic / likely pathogenic: 118
VariationIDs with uncertain significance: 231
VariationIDs with conflicting classifications: 23

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 ANOS1?

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 118 alleles in ANOS1 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 ANOS1.

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

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