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  3. SYNJ1
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Early onset dystonia

Gene: SYNJ1

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added to the panel due to review from Arianna Tucci. Is also green on the Parkinson panel.
Created: 15 Dec 2016, 11:27 a.m.
Created: 15 Dec 2016, 11:27 a.m.

Panel version: 1.9

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Comment from the Parkinson panel: PMID: 23804577, 23804563 (One biallelic missense mutation (p.Arg258Gln) reported in two Italian and one Iranian consanguineous families with autosomal recessive juvenile Parkinsonism), PMID: 27496670 (one indian consang family novel homozygous mutation (p.Arg459Pro) with juv parkinsonism. Keep this gene in both this gene to both the dystonia panel and pd. Also include this gene in ID / epilepsy panel? (biallelic mutations also just described in 3 families with early onset refractory seizures and progressive neurological decline: PMID 27435091.
Created: 15 Dec 2016, 11:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
juvenile Parkinsonism

Publications

Created: 15 Dec 2016, 11:10 a.m.

Panel version: 1.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • juvenile Parkinsonism
  • Parkinson disease 20, early-onset
OMIM
604297
Clinvar variants
Variants in SYNJ1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SYNJ1 were set to juvenile Parkinsonism;Parkinson disease 20, early-onset

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 0

Added New Source

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

SYNJ1 was added to Early onset dystoniapanel. Sources:

15 Dec 2016, Gel status: 0

Created

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

SYNJ1 was created by arianna.tucci