| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2110 | CAMTA1 | Zornitza Stark Marked gene: CAMTA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2110 | CAMTA1 | Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2110 | CAMTA1 | Zornitza Stark Classified gene: CAMTA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2110 | CAMTA1 | Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2096 | CAMTA1 |
Lilian Downie gene: CAMTA1 was added gene: CAMTA1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMTA1 were set to PMID: 31957018 Phenotypes for gene: CAMTA1 were set to Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756 Review for gene: CAMTA1 was set to RED Added comment: PMID: 31957018 sequencing in an epilepsy cohort - if negative looked at 'candidate epilepy genes', variant identified in CAMTA1 in patient with infantile spasms, refractory epilepsy, dev delay and corticovisual impairment. Sources: Expert list |
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