| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.2155 | KCTD13 | Elena Savva Mode of inheritance for gene: KCTD13 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2154 | KCTD13 | Elena Savva Phenotypes for gene: KCTD13 were changed from Neurodevelopmental disorder (MONDO#0700092), KCTD13-related to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2154 | KCTD13 | Elena Savva Phenotypes for gene: KCTD13 were changed from to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1345 | KCTD13 | Zornitza Stark Marked gene: KCTD13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1345 | KCTD13 | Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1344 | KCTD13 | Zornitza Stark Classified gene: KCTD13 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1344 | KCTD13 | Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1317 | KCTD13 |
Daniel Flanagan gene: KCTD13 was added gene: KCTD13 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: KCTD13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCTD13 were set to PMID: 33409479 Review for gene: KCTD13 was set to RED Added comment: Mouse model and in vitro evidence suggesting the deletion of KCTD13 has a similar metabolic affect as adenylosuccinate lyase deficiency, which has seizures and autistic features. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||