Early onset or syndromic epilepsy
Gene: DNAJC6EnsemblGeneIds (GRCh38): ENSG00000116675
EnsemblGeneIds (GRCh37): ENSG00000116675
OMIM: 608375, Gene2Phenotype
DNAJC6 is in 5 panels
6 reviews
Eleanor Williams (Genomics England Curator)
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: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:18 p.m.
Panel Version: 5.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Dmitrijs Rots (Children's Clinical University Hospital)
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
Rebecca Foulger (Genomics England curator)
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
Tracy Lester (Genetics laboratory, Oxford UK)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 19a juvenile-onset, 615528; Parkinson disease 19b early-onset, 615528
Publications
Sarah Leigh (Genomics England Curator)
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.
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Parkinson disease 19b, early-onset, OMIM:615528
- Parkinson disease 19a juvenile-onset, OMIM:615528
- juvenile onset Parkinson disease 19A, MONDO:0014231
- OMIM
- 608375
- Clinvar variants
- Variants in DNAJC6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: DNAJC6.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to DNAJC6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: DNAJC6.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: DNAJC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DNAJC6 were set to 22563501; 23211418; 26528954; 34175496; 26703368
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DNAJC6 were set to 23211418; 34175496
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DNAJC6 were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19b, early-onset, OMIM:615528; juvenile onset Parkinson disease 19A, MONDO:0014231
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to DNAJC6.
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to DNAJC6.
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Zornitza Stark: Seizures are reported in some
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)Expert Review Amber was added to DNAJC6. Panel: Genetic Epilepsy Syndromes
Added New Source
Sarah Leigh (Genomics England Curator)DNAJC6 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)DNAJC6 was created by Sarah Leigh