| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v1.185 | CCDC186 | Zornitza Stark Phenotypes for gene: CCDC186 were changed from Epileptic encephalopathy to Neurodevelopmental disorder, MONDO:0700092, CCDC186-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.184 | CCDC186 | Zornitza Stark Publications for gene: CCDC186 were set to 33259146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.183 | CCDC186 | Zornitza Stark Classified gene: CCDC186 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.183 | CCDC186 | Zornitza Stark Gene: ccdc186 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.182 | CCDC186 |
Zornitza Stark edited their review of gene: CCDC186: Added comment: PMID 40633195: Individual with another bi-allelic LoF variant reported, NM_018017.4:c.535C>T (p.Arg179Ter), presenting with seizures, ID and microcephaly. PMID: two Gypsy families reported, with same homozygous variant, c.2215C>T, p.Arg739Ter. EE was part of the phenotype, although the phenotype was broader.; Changed rating: GREEN; Changed publications: 33259146, 37569695, 40633195; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC186-related |
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| Genetic Epilepsy v0.1014 | CCDC186 | Zornitza Stark Marked gene: CCDC186 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1014 | CCDC186 | Zornitza Stark Gene: ccdc186 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1012 | CCDC186 |
Zornitza Stark gene: CCDC186 was added gene: CCDC186 was added to Genetic Epilepsy. 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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