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Early onset or syndromic epilepsy v1.465 DNAJC5 Rebecca Foulger Classified gene: DNAJC5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.465 DNAJC5 Rebecca Foulger Gene: dnajc5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.464 DNAJC5 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Demoted from Green to Amber.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Seizures present later. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.464 DNAJC5 Rebecca Foulger commented on gene: DNAJC5: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.400 DNAJC5 Rebecca Foulger Classified gene: DNAJC5 as Green List (high evidence)
Early onset or syndromic epilepsy v1.400 DNAJC5 Rebecca Foulger Added comment: Comment on list classification: Added to panel as a Green gene as seizures are a symptom of the metabolic disorder, and sufficient epilepsy cases from literature.
Early onset or syndromic epilepsy v1.400 DNAJC5 Rebecca Foulger Gene: dnajc5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.399 DNAJC5 Rebecca Foulger commented on gene: DNAJC5: PMID:22235333: Velinov et al., 2012. The authors previously described the Parry family in the 1970s. All affected individuals from the family had a history of progressive seizure disorder. They identified a pLeu116del variant in DNAJC5 which segregated with the disease. 8 additional families were studied for this paper, with seizures amongst the phenotypes. In one affected individual, pLeu115Arg was identified (proband BD-319) who had seizures and gradual dementia beginning in the mid 30s.
Early onset or syndromic epilepsy v1.399 DNAJC5 Rebecca Foulger commented on gene: DNAJC5: PMID:29506599: Jarrett et al., 2018 report a family with Kufs disease in which the proband and 3/4 children presented with cognitive impariment, seizures and myoclonus. Genetic testing of all four children was positive for a c.346_348delCTC(p.L116del) variant in the DNAJC5 gene. EEG on the asymptomatic fourth child showed moderatley severe slowing. The proband's father was deceased but had a history of epileptic seizures.
Early onset or syndromic epilepsy v1.399 DNAJC5 Rebecca Foulger commented on gene: DNAJC5: PMID:22978711: Cadieux-Dion et al., 2013. report a p.L116del variant in DNAJC5 in two distinct American families, and a p.L115R variant in an additional family. All individuals showed generalized tonic-clonic seizures.
Early onset or syndromic epilepsy v1.399 DNAJC5 Rebecca Foulger gene: DNAJC5 was added
gene: DNAJC5 was added to Genetic epilepsy syndromes. Sources: Literature,Other
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAJC5 were set to 22978711; 29506599; 22235333
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350; autosomal dominant Kufs disease; generalized tonic–clonic seizures
Added comment: Added DNAJC5 to the Epilepsy panel based on a Green rating on the 'Inborn errors of metabolism' panel: seizures are listed as a symptom of MIM:162350 in OMIM.
Sources: Literature, Other