Dystonia - childhood onset

Gene: SYNJ1

Green List (high evidence)

SYNJ1 (synaptojanin 1)
EnsemblGeneIds (GRCh38): ENSG00000159082
EnsemblGeneIds (GRCh37): ENSG00000159082
OMIM: 604297, Gene2Phenotype
SYNJ1 is in 8 panels

0 reviews

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
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SYNJ1 was added gene: SYNJ1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNJ1 were set to 23804577; 27496670; 23804563 Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Parkinson disease 20, early-onset