Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Genetic Epilepsy v0.1385 | DNAJC5 | Bryony Thompson Marked gene: DNAJC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1385 | DNAJC5 | Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1385 | DNAJC5 | Bryony Thompson Classified gene: DNAJC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1385 | DNAJC5 | Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1384 | DNAJC5 |
Bryony Thompson gene: DNAJC5 was added gene: DNAJC5 was added to Genetic Epilepsy. Sources: ClinGen Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 22978711; 21820099; 22235333; 31919451; 26659577 Phenotypes for gene: DNAJC5 were set to adult neuronal ceroid lipofuscinosis (MONDO:0019260) Review for gene: DNAJC5 was set to GREEN Added comment: ClinGen Epilepsy GCEP gene-disease curation: Moderate, >3 families reported. Classification - 07/30/2021 Sources: ClinGen |