Activity
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3 actions
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Mendeliome v0.6165 | CCDC186 | Zornitza Stark Marked gene: CCDC186 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6165 | CCDC186 | Zornitza Stark Gene: ccdc186 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.6165 | CCDC186 |
Zornitza Stark gene: CCDC186 was added gene: CCDC186 was added to Mendeliome. 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 |