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Early onset or syndromic epilepsy v2.491 CDK19 Sarah Leigh Tag for-review was removed from gene: CDK19.
Early onset or syndromic epilepsy v2.491 CDK19 Sarah Leigh commented on gene: CDK19: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 CDK19 Sarah Leigh Source Expert Review Green was added to CDK19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.303 CDK19 Julia Baptista reviewed gene: CDK19: Rating: GREEN; Mode of pathogenicity: None; Publications: 33495529, 33568421, 32330417; Phenotypes: developmental delay, hypotonia, seizures, autism/autistic traits; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early onset or syndromic epilepsy v2.274 CDK19 Helen Lord changed review comment from: Chung et al 2020 - 3 iunrealrted indicuduals with de novo missense variants in CDK19 - presented with hypotonia, global developmental delay, epileptic encephalopathy and dysmorphic features. Two patients had the Thr196Ala variant and the other Tyr32His - predicted to be likely pathogenic. Fuinctional work suggests dominant loss of function variants.; to: Chung et al 2020 - 3 unrelated indiviuduals with de novo missense variants in CDK19 - presented with hypotonia, global developmental delay, epileptic encephalopathy and dysmorphic features. Two patients had the Thr196Ala variant and the other Tyr32His - predicted to be likely pathogenic. Fuinctional work suggests dominant loss of function variants.
Early onset or syndromic epilepsy v2.274 CDK19 Helen Lord reviewed gene: CDK19: Rating: AMBER; Mode of pathogenicity: None; Publications: 32330417; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.111 CDK19 Sarah Leigh edited their review of gene: CDK19: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN
Early onset or syndromic epilepsy v2.111 CDK19 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 3 unrelated cases, together with supportive Drosophila, demonstating the effects of the variants (PMID 32330417).
Sources: Literature; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 3 unrelated cases, together with supportive Drosophila, demonstating the effects of the variants (PMID 32330417). PMID 20563892 reports a de novo pericentric inversion in chromosome 6 with breakpoints in 6p12.1 and 6q21 reported in a female patient with microcephaly, congenital bilateral falciform retinal folds, nystagmus, and mental retardation. Supporting in vitro and drosophila model data also included.
Sources: Literature
Early onset or syndromic epilepsy v2.111 CDK19 Sarah Leigh Phenotypes for gene: CDK19 were changed from to Epileptic encephalopathy, early infantile 87 618916
Early onset or syndromic epilepsy v2.110 CDK19 Sarah Leigh Publications for gene: CDK19 were set to
Early onset or syndromic epilepsy v2.109 CDK19 Sarah Leigh Classified gene: CDK19 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.109 CDK19 Sarah Leigh Gene: cdk19 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.108 CDK19 Sarah Leigh gene: CDK19 was added
gene: CDK19 was added to Genetic epilepsy syndromes. Sources: Literature
for-review tags were added to gene: CDK19.
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: CDK19 was set to AMBER
Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in 3 unrelated cases, together with supportive Drosophila, demonstating the effects of the variants (PMID 32330417).
Sources: Literature