Childhood onset dystonia, chorea or related movement disorder

Gene: DNAJC6

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 4 May 2024, 6:04 p.m. | Last Modified: 4 May 2024, 6:05 p.m.

Panel Version: 4.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 22 Jun 2023, 4:22 p.m. | Last Modified: 22 Jun 2023, 4:22 p.m.

Panel Version: 3.16

DNAJC6 variants are associated with Parkinson disease 19b, early-onset (OMIM:615528), but not with a phenotype in Gen2Phen. At least nine variants have been reported in unrelated families. Early onset movement disorders were seen all of the nine families studied. Seizures were reported in 5/9 families and dystonia was reported in 4/9 families reported (data review in PMID: 34175496.

Created: 22 Jun 2023, 4:18 p.m. | Last Modified: 22 Jun 2023, 4:18 p.m.

Panel Version: 3.13

I don't know

Ray et al. in 34175496 summarized reported cases with DNAJC6 - 6/6 studies had childhood-onset movement disorder (mostly parkinsonism) and homozygous variant (nonsense, splice, frameshift and missense).
Sources: Literature

Created: 11 Sep 2022, 9:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 34175496