| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early onset or syndromic epilepsy v2.298 | CCDC186 | Sarah Leigh Tag watchlist tag was added to gene: CCDC186. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.298 | CCDC186 | Sarah Leigh Classified gene: CCDC186 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.298 | CCDC186 | Sarah Leigh Added comment: Comment on list classification: Not associated with a relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in cases with failure to thrive and developmental delay, epileptic encephalopathy was rerported in one case (PMID33259146). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.298 | CCDC186 | Sarah Leigh Gene: ccdc186 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.297 | CCDC186 | Sarah Leigh Publications for gene: CCDC186 were set to 33259146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.281 | CCDC186 |
Zornitza Stark gene: CCDC186 was added gene: CCDC186 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC186 were set to 33259146 Phenotypes for gene: CCDC186 were set to Epileptic encephalopathy Review for gene: CCDC186 was set to RED Added comment: One individual reported with bi-allelic truncating variant and EE. Sources: Literature |
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