1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. SYNJ1
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

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

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

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

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Parkinson disease 20, early-onset, OMIM:615530
OMIM
604297
Clinvar variants
Variants in SYNJ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SYNJ1.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SYNJ1.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SYNJ1 was added gene: SYNJ1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNJ1 were set to 27435091; 27496670; 26149920; 23804563; 23804577 Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Early Onset Complex Disease; Parkinson disease 20, early-onset, 615530; Parkinson disease 20, early-onset