GENE REFERENCE / HGNC:4512

ADGRG1

adhesion G protein-coupled receptor G1

protein-coding gene16q21Gene information

What does this gene do?

The ADGRG1 gene, formerly known as GPR56, provides instructions for making a protein that is critical for normal brain development. Before birth, the ADGRG1 protein appears to be essential for the normal growth and movement (migration) of nerve cells (neurons) in a part of the brain called the cerebral cortex. This outer layer of the brain carries out many important functions, such as sensation, voluntary muscle movement, thought, planning, and memory.

Although the ADGRG1 protein has been studied most extensively in the brain, it is active in many of the body's tissues. This protein interacts with other proteins on the cell surface to trigger a series of chemical signals within the cell. Studies suggest that ADGRG1 signaling may play an important role in attaching cells to one another (cell adhesion).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2009-06.

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
bilateral frontoparietal polymicrogyriaMONDO:0011738 · Evaluated 2023-10-24	Autosomal recessive	DefinitiveBrain 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: 1,166
Submissions for variants in or overlapping this gene: 1,796
Submissions explicitly reporting this gene: 1,759
Alleles reported pathogenic / likely pathogenic: 134
VariationIDs with uncertain significance: 292
VariationIDs with conflicting classifications: 63

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 ADGRG1?

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 134 alleles in ADGRG1 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 ADGRG1.

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

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