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 |
|---|---|---|---|
| RS114994257 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, 1 |
| RS115989459 | Health Risk | Conflicting classifications of pathogenicity | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS1298315820 | Health Risk | Conflicting classifications of pathogenicity | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS1367145848 | Health Risk | Conflicting classifications of pathogenicity | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS147929290 | Health Risk | Conflicting classifications of pathogenicity | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS149288077 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS149817769 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS368736353 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS371765751 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS373820739 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS377350366 | Health Risk | Conflicting classifications of pathogenicity | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS528030561 | Health Risk | Conflicting classifications of pathogenicity | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS532034867 | Health Risk | Conflicting classifications of pathogenicity | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS533216340 | Health Risk | Conflicting classifications of pathogenicity | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS533995497 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS565013600 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy |
| RS746811167 | Health Risk | Conflicting classifications of pathogenicity | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS761614356 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS773437219 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS779059079 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS911362591 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS1085307987 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS1286247510 | Health Risk | Likely pathogenic | Early-onset Parkinson disease 20, Early-onset Parkinson disease 20 |
| RS1569086116 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS2040866242 | Health Risk | Likely pathogenic | Early-onset Parkinson disease 20, Early-onset Parkinson disease 20 |
| RS2042124608 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS2145769010 | Health Risk | Likely pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2517368826 | Health Risk | Likely pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2517442308 | Health Risk | Likely pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2517541465 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS2517618157 | Health Risk | Likely pathogenic | — |
| RS1040540690 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS1057524878 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Developmental and epileptic encephalopathy |
| RS1057524879 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Inborn genetic diseases |
| RS1057524880 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Inborn genetic diseases |
| RS1060499619 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Early-onset Parkinson disease 20 |
| RS1160469053 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS1227986180 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS1230133310 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS1373545506 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Developmental and epileptic encephalopathy |
| RS1419316294 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS1555907463 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Early-onset Parkinson disease 20 |
| RS1569147057 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2039933328 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS2040913777 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS2042344677 | Health Risk | Pathogenic | — |
| RS2145756643 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2145981153 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 53, Early-onset Parkinson disease 20 |
| RS2146047336 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |
| RS2146213143 | Health Risk | Pathogenic | Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy, 53 |