GENE REFERENCE / HGNC:17089

SYNE1

spectrin repeat containing nuclear envelope protein 1

protein-coding gene6q25.2Gene information

What does this gene do?

The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. The Syne-1 protein plays a role in the maintenance of the part of the brain that coordinates movement (the cerebellum). The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons). The protein is thought to attach the membrane of Purkinje cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. It is not clear what role this attachment plays in Purkinje cell function.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2010-10.

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
arthrogryposis multiplex congenita 3, myogenic typeMONDO:0032778 · Evaluated 2025-12-10	Autosomal recessive	ModerateCerebellar Ataxia Gene Curation Expert Panel
autosomal recessive ataxia, Beauce typeMONDO:0012549 · Evaluated 2025-12-10	Autosomal recessive	DefinitiveCerebellar Ataxia 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: 7,293
Submissions for variants in or overlapping this gene: 14,208
Submissions explicitly reporting this gene: 13,991
Alleles reported pathogenic / likely pathogenic: 434
VariationIDs with uncertain significance: 3,602
VariationIDs with conflicting classifications: 603

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 SYNE1?

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 434 alleles in SYNE1 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 SYNE1.

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

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