GENE REFERENCE / HGNC:17019

PRICKLE1

prickle planar cell polarity protein 1

protein-coding gene12q12Gene information

What does this gene do?

The PRICKLE1 gene provides instructions for making a protein called prickle homolog 1. The function of this protein is unclear, although it appears to play an important role in the development of the nervous system. Prickle homolog 1 is likely part of a chemical signaling pathway known as noncanonical Wnt signaling. During development before birth, noncanonical Wnt signaling helps to determine the position of various components within cells (cell polarity). This pathway also regulates the movement of nerve cells (neurons) in the developing nervous system.

Studies suggest that prickle homolog 1 interacts with other proteins, including RE1-silencing transcription factor (REST). The REST protein regulates several critical genes in neurons by turning off (suppressing) their activity. To regulate these genes, REST must enter the nucleus and attach (bind) to particular regions of DNA. Researchers believe that prickle homolog 1 controls REST by transporting it out of the nucleus, which prevents it from binding to DNA and suppressing gene activity. It remains unclear how the interaction between prickle homolog 1 and REST contributes to the normal development of the nervous system.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2011-11.

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
epilepsyMONDO:0005027 · Evaluated 2020-09-01	Autosomal dominant	DisputedEpilepsy Gene Curation Expert Panel
progressive myoclonus epilepsyMONDO:0020074 · Evaluated 2025-07-01	Autosomal recessive	LimitedEpilepsy 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: 664
Submissions for variants in or overlapping this gene: 1,081
Submissions explicitly reporting this gene: 1,044
Alleles reported pathogenic / likely pathogenic: 4
VariationIDs with uncertain significance: 385
VariationIDs with conflicting classifications: 13

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 PRICKLE1?

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 4 alleles in PRICKLE1 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 PRICKLE1.

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

Buy BioDecode See a sample report →Check file compatibility →