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  2. Early onset and familial Parkinson's Disease
  3. SYNJ1
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Early onset and familial Parkinson's Disease

Gene: SYNJ1

Red List (low evidence)
SYNJ1 (synaptojanin 1)
EnsemblGeneIds (GRCh38): ENSG00000159082
EnsemblGeneIds (GRCh37): ENSG00000159082
OMIM: 604297, Gene2Phenotype
SYNJ1 is in 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 20, early-onset, 615530
OMIM
604297
Clinvar variants
Variants in SYNJ1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SYNJ1 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNJ1 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNJ1 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert