| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2802 | KATNB1 | Zornitza Stark Marked gene: KATNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2802 | KATNB1 | Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2802 | KATNB1 | Zornitza Stark Classified gene: KATNB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2802 | KATNB1 | Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2801 | KATNB1 | Zornitza Stark reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 6, with microcephaly MIM#616212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2184 | KATNB1 |
Elena Savva gene: KATNB1 was added gene: KATNB1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KATNB1 were set to PMID: 26640080 Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly MIM#616212 Review for gene: KATNB1 was set to RED Added comment: PMID: 26640080 - Proband with congenital microcephaly, lissencephaly, short stature, polysyndactyly, and dental abnormalities. Seizures developed by 6mo, had a homozygous canonical splice deletion PMID: 31484711 - describes patients with seizures (epilepsy was documented in 69%) from a cohort with subcortical heterotopic gray matter malformations, but unclear which were specific for this gene Sources: Literature |
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