Childhood onset dystonia, chorea or related movement disorder
Gene: SYNJ1

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

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Parkinson disease 20, early-onset, 615530
juvenile Parkinsonism

OMIM

604297

Clinvar variants

Variants in SYNJ1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SYNJ1 were changed from Parkinson disease 20, early-onset; juvenile Parkinsonism to Parkinson disease 20, early-onset, 615530; juvenile Parkinsonism

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to SYNJ1. Mode of inheritance for gene SYNJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Parkinson disease 20, early-onset; juvenile Parkinsonism for gene: SYNJ1 Publications for gene SYNJ1 were changed from to 27496670; 23804577; 23804563