22 Jun 2023
Early onset or syndromic epilepsy v4.62
DNAJC6
Sarah Leigh Tag Q3_23_promote_green tag was added to gene: DNAJC6.
22 Jun 2023
Early onset or syndromic epilepsy v4.62
DNAJC6
Sarah Leigh Classified gene: DNAJC6 as Amber List (moderate evidence)
22 Jun 2023
Early onset or syndromic epilepsy v4.62
DNAJC6
Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
22 Jun 2023
Early onset or syndromic epilepsy v4.62
DNAJC6
Sarah Leigh Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
22 Jun 2023
Early onset or syndromic epilepsy v4.61
DNAJC6
Sarah Leigh edited their review of gene: DNAJC6: Added comment: 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.; Changed rating: GREEN
22 Jun 2023
Early onset or syndromic epilepsy v4.61
DNAJC6
Sarah Leigh Deleted their comment
22 Jun 2023
Early onset or syndromic epilepsy v4.61
DNAJC6
Sarah Leigh 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
22 Jun 2023
Early onset or syndromic epilepsy v4.60
DNAJC6
Sarah Leigh Mode of inheritance for gene: DNAJC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
22 Jun 2023
Early onset or syndromic epilepsy v4.59
DNAJC6
Sarah Leigh Publications for gene: DNAJC6 were set to 22563501; 23211418; 26528954; 34175496; 26703368
22 Jun 2023
Early onset or syndromic epilepsy v4.58
DNAJC6
Sarah Leigh Publications for gene: DNAJC6 were set to 23211418; 34175496
22 Jun 2023
Early onset or syndromic epilepsy v4.57
DNAJC6
Sarah Leigh Publications for gene: DNAJC6 were set to
22 Jun 2023
Early onset or syndromic epilepsy v4.56
DNAJC6
Sarah Leigh Added comment: Comment on phenotypes: OMIM:615528 also includes Parkinson disease 19a, juvenile-onset
22 Jun 2023
Early onset or syndromic epilepsy v4.56
DNAJC6
Sarah Leigh Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19b, early-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231
11 Sep 2022
Early onset or syndromic epilepsy v2.593
DNAJC6
Dmitrijs Rots changed review comment from: Ray et al. in 34175496 summarized reported cases with DNAJC6 - 6/6 cases had movement disorder and homozygous variant (nonsense, splice, frameshift and missense) and 3/6 cases had seizures reported.; to: 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.
11 Sep 2022
Early onset or syndromic epilepsy v2.593
DNAJC6
Dmitrijs Rots reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 34175496; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Aug 2019
Early onset or syndromic epilepsy v1.191
DNAJC6
Rebecca Foulger Source Wessex and West Midlands GLH was added to DNAJC6.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
DNAJC6
Rebecca Foulger Source NHS GMS was added to DNAJC6.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
DNAJC6
Rebecca Foulger reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
DNAJC6
Tracy Lester reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: 23211418; Phenotypes: Parkinson disease 19a juvenile-onset, 615528, Parkinson disease 19b early-onset, 615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Dec 2018
Early onset or syndromic epilepsy v0.1529
DNAJC6
Sarah Leigh Marked gene: DNAJC6 as ready
11 Dec 2018
Early onset or syndromic epilepsy v0.1529
DNAJC6
Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
11 Dec 2018
Early onset or syndromic epilepsy v0.1529
DNAJC6
Sarah Leigh Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
12 Aug 2018
Early onset or syndromic epilepsy
DNAJC6
Zornitza Stark reviewed gene: DNAJC6
25 Jun 2018
Early onset or syndromic epilepsy
DNAJC6
Sarah Leigh Added gene to panel