| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.2324 | ZSWIM6 | Elena Savva Marked gene: ZSWIM6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2324 | ZSWIM6 | Elena Savva Gene: zswim6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2324 | ZSWIM6 | Elena Savva Classified gene: ZSWIM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2324 | ZSWIM6 | Elena Savva Gene: zswim6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2323 | ZSWIM6 |
Elena Savva gene: ZSWIM6 was added gene: ZSWIM6 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZSWIM6 were set to PMID: 29198722; 33958584 Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis MIM#603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865 Review for gene: ZSWIM6 was set to GREEN Added comment: Seizures listed in OMIM as a feature of both conditions. PMID: 29198722 - seven unrelated individuals with a recurrent de novo nonsense variant p.Arg913* in the penultimate exon. 4/7 confirmed to have seizures or possible seizures. PMID: 33958584 - Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations. Proband had the same de novo p.Arg913* variant Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||