SYNJ1 Chromosome 21
Synaptojanin 1
Upload your DNA to see your personal genotypes for variants in SYNJ1.
What This Gene Does
This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Phosphoinositide phosphatases
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000159082
Associated Conditions (7)
Developmental and epileptic encephalopathy
53
1
Early-onset Parkinson disease 20
Inborn genetic diseases
SYNJ1-related disorder
Young-onset Parkinson disease
Key Variants
RS114994257
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 53, 1
Health Risk
RS115989459
Conflicting classifications of pathogenicity
Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53
Health Risk
RS1298315820
Conflicting classifications of pathogenicity
Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53
Health Risk
RS1367145848
Conflicting classifications of pathogenicity
Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53
Health Risk
RS147929290
Conflicting classifications of pathogenicity
Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53
Health Risk
RS149288077
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20
Health Risk
RS149817769
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20
Health Risk
RS368736353
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20
Health Risk
RS371765751
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20
Health Risk
RS373820739
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20
Health Risk
RS377350366
Conflicting classifications of pathogenicity
Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53
Health Risk
RS528030561
Conflicting classifications of pathogenicity
Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2146213651 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2516694144 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2516717906 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2516760115 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2517088469 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS2517367397 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2517473941 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2517530686 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS398122403 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS747261340 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS756965178 | Health Risk | Pathogenic | — |
| RS778394516 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS886039732 | Health Risk | Pathogenic | — |
| RS1488690709 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS1569075471 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 1, Early-onset Parkinson disease 20 |
| RS2517619244 | Health Risk | Pathogenic/Likely pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |