GENE REFERENCE / HGNC:3226

EFNB1

ephrin B1

protein-coding geneXq13.1Gene information

What does this gene do?

The EFNB1 gene provides instructions for making a protein called ephrin B1. This protein spans the membrane that surrounds the cell. The portion outside the cell attaches (binds) to proteins called Eph receptor kinases on the surface of neighboring cells. Together, these proteins form Eph/ephrin complexes, which help cells stick to one another (cell adhesion) and communicate. Communication between the attached cells plays a critical role in the normal shaping (patterning) of many tissues and organs before birth. In the brain, Eph/ephrin complexes also play a part in the development of nerve cells (neurons) and in the ability of the connections between neurons (synapses) to change and adapt over time in response to experience (synaptic plasticity).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2020-01.

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
craniofrontonasal syndromeMONDO:0010570 · Evaluated 2020-10-26	X-linked	DefinitiveCraniofacial Malformations 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: 374
Submissions for variants in or overlapping this gene: 453
Submissions explicitly reporting this gene: 301
Alleles reported pathogenic / likely pathogenic: 78
VariationIDs with uncertain significance: 104
VariationIDs with conflicting classifications: 7

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 EFNB1?

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 78 alleles in EFNB1 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 EFNB1.

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

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