| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2235 | COL3A1 | Zornitza Stark Marked gene: COL3A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2235 | COL3A1 | Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2235 | COL3A1 | Zornitza Stark Classified gene: COL3A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2235 | COL3A1 | Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2130 | COL3A1 |
Lilian Downie gene: COL3A1 was added gene: COL3A1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: COL3A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL3A1 were set to PMID: 28258187, PMID: 37393059, PMID: 28742248, PMID: 22235340 Phenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343 Review for gene: COL3A1 was set to GREEN Added comment: PMID: 37393059: 1 family with 2 sibs with epilepsy homozygous VUS variants in COL3A1 PMID: 28742248 1 family 2 sibs with seizures ID and biallelic variants in COL3A1 PMID: 22235340 mouse model with seizures Sources: Expert list |
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