Parkinson Disease and Complex Parkinsonism
Gene: DNAJC6
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
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.
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.
Publications for gene: DNAJC6 were set to 26528954; 27687717; 26703368; 22563501; 23211418
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
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
Publications for DNAJC6 were set to 26528954; 27687717; 26703368; 22563501; 23211418
Publications for DNAJC6 were set to 26528954; 27687717;26703368; 22563501; 23211418; 26528954
This gene has been classified as Green List (High Evidence).
Publications for DNAJC6 were set to 26528954;27687717
Publications for DNAJC6 were set to 26528954
Phenotypes for DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19a, juvenile-onset;Parkinson disease 19b, early-onset
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for DNAJC6 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAJC6 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Radboud University Medical Center, Nijmegen
DNAJC6 was created by ellenmcdonagh