| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2223 | SUMF1 | Elena Savva Marked gene: SUMF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2223 | SUMF1 | Elena Savva Gene: sumf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2223 | SUMF1 |
Elena Savva gene: SUMF1 was added gene: SUMF1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 36980153; 36959582 Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency MIM#272200 Review for gene: SUMF1 was set to RED Added comment: PMID: 36980153 - review, no patients described with seizures/epilepsy PMID: 36959582 - review, no patients described with seizures/epilepsy. Single proband in the study reported to have intractable epilepsy during sleep EEG study Gene was listed in the Oliver list Sources: Literature |
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