PRICKLE2 Chromosome 3
Prickle planar cell polarity protein 2
Upload your DNA to see your personal genotypes for variants in PRICKLE2.
What This Gene Does
This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Prickle planar cell polarity proteins|LIM domain containing"
Locus Type
gene with protein product
Location
3p14.1
Ensembl
ENSG00000163637
Associated Conditions (11)
Progressive myoclonic epilepsy
Myoclonic epilepsy
progressive
X-linked
Progressive myoclonic epilepsy type 5
PRICKLE2-related disorder
Self-limited epilepsy with centrotemporal spikes
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
See cases
Key Variants
RS139238137
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
Health Risk
RS139747674
Conflicting classifications of pathogenicity
Myoclonic epilepsy, progressive, X-linked
Health Risk
RS144338942
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy
Health Risk
RS144757200
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
Health Risk
RS148689951
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 5, PRICKLE2-related disorder, Progressive myoclonic epilepsy type 5
Health Risk
RS148888682
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy
Health Risk
RS180903875
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
Health Risk
RS200220646
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
Health Risk
RS202170644
Conflicting classifications of pathogenicity
Self-limited epilepsy with centrotemporal spikes, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy
Health Risk
RS367680077
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
Health Risk
RS367685080
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy type 5
Health Risk
RS387906989
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 5, Sensory ataxic neuropathy, dysarthria
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139238137 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS139747674 | Health Risk | Conflicting classifications of pathogenicity | Myoclonic epilepsy, progressive, X-linked |
| RS144338942 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy |
| RS144757200 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5 |
| RS148689951 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 5, PRICKLE2-related disorder, Progressive myoclonic epilepsy type 5 |
| RS148888682 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy |
| RS180903875 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5 |
| RS200220646 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5 |
| RS202170644 | Health Risk | Conflicting classifications of pathogenicity | Self-limited epilepsy with centrotemporal spikes, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy |
| RS367680077 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5 |
| RS367685080 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy type 5 |
| RS387906989 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 5, Sensory ataxic neuropathy, dysarthria |
| RS567814417 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy |
| RS727504105 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727504106 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy |
| RS745530308 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy |
| RS751122249 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy type 5 |
| RS771168722 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy |
| RS886058800 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy |
| RS2078512215 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2107015478 | Health Risk | Likely pathogenic | See cases, See cases |
| RS750828226 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2077760949 | Health Risk | Pathogenic | See cases, See cases |
| RS797045065 | Health Risk | Pathogenic | Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy type 5 |