| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v1.190 | C1orf109 | Zornitza Stark Marked gene: C1orf109 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.190 | C1orf109 | Zornitza Stark Gene: c1orf109 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.190 | C1orf109 | Zornitza Stark Classified gene: C1orf109 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.190 | C1orf109 | Zornitza Stark Gene: c1orf109 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.189 | C1orf109 |
Zornitza Stark gene: C1orf109 was added gene: C1orf109 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: C1orf109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1orf109 were set to 40760247 Phenotypes for gene: C1orf109 were set to Neurodevelopmental disorder, MONDO:0700092, C1orf109-related Review for gene: C1orf109 was set to GREEN Added comment: Cohort of 11 unrelated families, encompassing 18 individuals with bi-allelic variants in C1orf109, 17 liveborn. Affected individuals presented with moderate-to-severe or severe global developmental delay/intellectual disability (17 of 17) and never achieved developmental milestones. Microcephaly and seizures were other common features. Reduced ribosome activity demonstrated during early brain development. Sources: Literature |
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