Parkinson Disease and Complex Parkinsonism
Gene: SYNJ1
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: 14 Dec 2016, 5:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
juvenile Parkinsonism
Publications
Literature is mixed about whether SYNJ1 mutations are relevant (PMID:26149920 report that SYNJ1 mutations are not relevant in Taiwanese population). Mutations are present in some cohorts though even if rare: PMID:27496670 report a mutation (c.1376C > G, p.Arg459Pro) in an Indian family, in addition to the Iranian and Italian cases noted below.Created: 10 Nov 2016, 4:28 p.m.
Comment on list classification: Confirmed with Arianna this should be green on complex parkinson panel. Recent publication with several families reported.Created: 8 Dec 2016, 3:30 p.m.
Comment on list classification: Two family reports (Iranian and Italian) for the same variant. Need to carry out literature search to identify any further cases.Created: 3 Nov 2016, 6:09 p.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for SYNJ1 were set to Parkinson disease 20, early-onset, 615530; Early Onset Complex Disease;juvenile Parkinsonism
This gene has been classified as Green List (High Evidence).
Publications for SYNJ1 were set to 26149920; 27496670; 27435091
Publications for SYNJ1 were set to 26149920;27496670
This gene has been classified as Amber List (Moderate Evidence).
SYNJ1 was created by ellenmcdonagh
SYNJ1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen,Expert