Childhood onset dystonia, chorea or related movement disorder
Gene: DNAJC6
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
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: LiteratureCreated: 11 Sep 2022, 9:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Tag Q3_23_promote_green tag was added to gene: DNAJC6.
Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Gene: dnajc6 has been classified as Green List (High Evidence).
Publications for gene: DNAJC6 were set to 34175496
Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19b, early-onset, OMIM:615528; Parkinson disease 19a juvenile-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231
gene: DNAJC6 was added gene: DNAJC6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC6 were set to 34175496 Review for gene: DNAJC6 was set to AMBER