Parkinson Disease and Complex Parkinsonism
Gene: DNAJC6

DNAJC6 (DnaJ heat shock protein family (Hsp40) member C6)
EnsemblGeneIds (GRCh38): ENSG00000116675
EnsemblGeneIds (GRCh37): ENSG00000116675
OMIM: 608375, Gene2Phenotype
DNAJC6 is in 5 panels

3 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Biallelic mutations have been described in early onset PD. PMID: 22563501 (1 palestinian consanguineus family, 2 affected with JO-PD), 26703368 (1 consang Sudanese family, 1 affected with JOPD), 23211418 (1 consang family, multiple affected, JO-PD plus additional atypical signs), 26528954 (3 families, 3 affected with JO-PD)
Created: 14 Dec 2016, 5:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 5:27 p.m.

Panel version: 0.161

Rebecca Foulger (Genomics England curator)

PMID:26528954 states that "Screening of DNAJC6 is warranted in all patients with early-onset PD compatible with autosomal recessive inheritance". PMID:27687717 report no DNAJC6 mutations in a Chinese Han population.
Created: 10 Nov 2016, 4:13 p.m.

Created: 10 Nov 2016, 4:13 p.m.

Panel version: 0.126

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed with Arianna this should be green.
Created: 8 Dec 2016, 3:10 p.m.

Comment on list classification: More than 3 family/case reports in OMIM, though no expert review.
Created: 3 Nov 2016, 10:49 a.m.

Created: 3 Nov 2016, 10:49 a.m.

Panel version: 0.83

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

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

Complete

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; 27687717; 26703368; 22563501; 23211418

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, 615528; Parkinson disease 19a, juvenile-onset; Parkinson disease 19b, early-onset to Parkinson disease 19b, early-onset, OMIM:615528; Parkinson disease 19a juvenile-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231

19 Dec 2016, Gel status: 4