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| Genetic Epilepsy v0.2198 | CCDC88C | Rylee Peters reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 38173219; Phenotypes: monogenic epilepsy MONDO:0015653, CCDC88C-related; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2116 | CCDC88C | Zornitza Stark Marked gene: CCDC88C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2116 | CCDC88C | Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2116 | CCDC88C | Zornitza Stark Classified gene: CCDC88C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2116 | CCDC88C | Zornitza Stark Gene: ccdc88c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2112 | CCDC88C |
Lilian Downie gene: CCDC88C was added gene: CCDC88C was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC88C were set to PMID: 29341397, PMID: 23042809, PMID: 21031079 Phenotypes for gene: CCDC88C were set to Hydrocephalus, congenital, 1 MIM#236600 Review for gene: CCDC88C was set to GREEN Added comment: 3 independant families with seizures reported as a feature, onset between birth and 2 years. Focal and tonic clonic. Summary table in PMID: 29341397. Sources: Expert list |
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