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Early onset or syndromic epilepsy v5.6 DNAJC6 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: 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.
Early onset or syndromic epilepsy v5.6 DNAJC6 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DNAJC6.
Early onset or syndromic epilepsy v5.6 DNAJC6 Eleanor Williams reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v5.5 DNAJC6 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v4.62 DNAJC6 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: DNAJC6.
Early onset or syndromic epilepsy v4.62 DNAJC6 Sarah Leigh Classified gene: DNAJC6 as Amber List (moderate evidence)
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.
Early onset or syndromic epilepsy v4.62 DNAJC6 Sarah Leigh Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
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
Early onset or syndromic epilepsy v4.61 DNAJC6 Sarah Leigh Deleted their comment
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
Early onset or syndromic epilepsy v4.60 DNAJC6 Sarah Leigh Mode of inheritance for gene: DNAJC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v4.59 DNAJC6 Sarah Leigh Publications for gene: DNAJC6 were set to 22563501; 23211418; 26528954; 34175496; 26703368
Early onset or syndromic epilepsy v4.58 DNAJC6 Sarah Leigh Publications for gene: DNAJC6 were set to 23211418; 34175496
Early onset or syndromic epilepsy v4.57 DNAJC6 Sarah Leigh Publications for gene: DNAJC6 were set to
Early onset or syndromic epilepsy v4.56 DNAJC6 Sarah Leigh Added comment: Comment on phenotypes: OMIM:615528 also includes Parkinson disease 19a, juvenile-onset
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
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.
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
Early onset or syndromic epilepsy v1.191 DNAJC6 Rebecca Foulger Source Wessex and West Midlands GLH was added to DNAJC6.
Early onset or syndromic epilepsy v1.190 DNAJC6 Rebecca Foulger Source NHS GMS was added to DNAJC6.
Early onset or syndromic epilepsy v1.189 DNAJC6 Rebecca Foulger reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.1529 DNAJC6 Sarah Leigh Marked gene: DNAJC6 as ready
Early onset or syndromic epilepsy v0.1529 DNAJC6 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 DNAJC6 Sarah Leigh Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy DNAJC6 Zornitza Stark reviewed gene: DNAJC6
Early onset or syndromic epilepsy DNAJC6 Sarah Leigh Added gene to panel