1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. DNAJC6
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: DNAJC6

Green List (high evidence)
DNAJC6 (DnaJ heat shock protein family (Hsp40) member C6)
EnsemblGeneIds (GRCh38): ENSG00000116675
EnsemblGeneIds (GRCh37): ENSG00000116675
OMIM: 608375, Gene2Phenotype
DNAJC6 is in 5 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 19b, early-onset, OMIM:615528
  • Parkinson disease 19a juvenile-onset, OMIM:615528
  • juvenile onset Parkinson disease 19A, MONDO:0014231
OMIM
608375
Clinvar variants
Variants in DNAJC6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jun 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DNAJC6 were set to 26528954; 23211418; 27687717; 26703368; 22563501

22 Jun 2023, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19, juvenile-onset, OMIM:615528; Parkinson disease 19b, early-onset, OMIM:615528 to Parkinson disease 19b, early-onset, OMIM:615528; Parkinson disease 19a juvenile-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19a, juvenile-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19b, early-onset to Parkinson disease 19, juvenile-onset, OMIM:615528; Parkinson disease 19b, early-onset, OMIM:615528

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DNAJC6.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to DNAJC6.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DNAJC6 was added gene: DNAJC6 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC6 were set to 26528954; 23211418; 27687717; 26703368; 22563501 Phenotypes for gene: DNAJC6 were set to Parkinson disease 19a, juvenile-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19b, early-onset