PRICKLE1 Chromosome 12
Prickle planar cell polarity protein 1
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What This Gene Does
This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Prickle planar cell polarity proteins|LIM domain containing"
Locus Type
gene with protein product
Location
12q12
Ensembl
ENSG00000139174
Associated Conditions (6)
Epilepsy
progressive myoclonic
1B
PRICKLE1-related disorder
Self-limited epilepsy with centrotemporal spikes
Intellectual disability
Key Variants
RS116197349
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS138452760
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS141743294
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS142502371
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS145493619
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS146650383
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS149496604
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS150545495
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS200171609
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS550752320
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS727504104
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
RS748454609
Conflicting classifications of pathogenicity
Epilepsy, progressive myoclonic, 1B
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116197349 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS138452760 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS141743294 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS142502371 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS145493619 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS146650383 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS149496604 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS150545495 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS200171609 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS550752320 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS727504104 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS748454609 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS769599129 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, progressive myoclonic, 1B |
| RS281865564 | Health Risk | Pathogenic | Epilepsy, progressive myoclonic, 1B |
| RS113994140 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, progressive myoclonic, 1B |