| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2173 | IBA57 | Elena Savva Marked gene: IBA57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2173 | IBA57 | Elena Savva Gene: iba57 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2173 | IBA57 |
Elena Savva gene: IBA57 was added gene: IBA57 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to PMID: 30258207 Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3 MIM#615330 Review for gene: IBA57 was set to RED Added comment: PMID: 30258207 - girl with developmental regression and spastic quadriplegia. Brain MRI at 8 months showed cerebral white matter involvement, periventricular rarefaction, and corpus callosum involvement. She developed febrile seizures at the age of 18 months. Chet missense pair found, no functional studies to support pathogenicity Sources: Literature |
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