Early onset or syndromic epilepsy
Gene: DNAJC6
Ray et al. in 34175496 summarized reported cases with DNAJC6 - 6/6 studies had movement disorder and homozygous variant (nonsense, splice, frameshift and missense) and 3/6 studies had seizures reported.Created: 11 Sep 2022, 9:39 p.m. | Last Modified: 11 Sep 2022, 9:42 p.m.
Panel Version: 2.593
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 19a juvenile-onset, 615528; Parkinson disease 19b early-onset, 615528
Publications
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: 4.62
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. 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, 4:15 p.m. | Last Modified: 22 Jun 2023, 4:15 p.m.
Panel Version: 4.61
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 1:18 p.m.
Seizures are reported in some patients.Created: 12 Aug 2018, 6:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 19b, early-onset, MIM#615528
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_23_promote_green tag was added to gene: DNAJC6.
Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DNAJC6 were changed from Parkinson disease 19b, early-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231 to Parkinson disease 19b, early-onset, OMIM:615528; Parkinson disease 19a juvenile-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231
Mode of inheritance for gene: DNAJC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC6 were set to 22563501; 23211418; 26528954; 34175496; 26703368
Publications for gene: DNAJC6 were set to 23211418; 34175496
Publications for gene: DNAJC6 were set to
Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19b, early-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231
Source Wessex and West Midlands GLH was added to DNAJC6.
Source NHS GMS was added to DNAJC6.
Zornitza Stark: Seizures are reported in some
Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to DNAJC6. Panel: Genetic Epilepsy Syndromes
DNAJC6 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
DNAJC6 was created by Sarah Leigh