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| Polymicrogyria and Schizencephaly v0.200 | CRNKL1 | Zornitza Stark Marked gene: CRNKL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.200 | CRNKL1 | Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.200 | CRNKL1 | Zornitza Stark Phenotypes for gene: CRNKL1 were changed from intellectual disability; epilepsy; simplified gyration; microcephaly to Complex neurodevelopmental disorder, CRNKL1-related - MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.199 | CRNKL1 | Zornitza Stark Classified gene: CRNKL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.199 | CRNKL1 | Zornitza Stark Gene: crnkl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.198 | CRNKL1 |
Boris Keren gene: CRNKL1 was added gene: CRNKL1 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRNKL1 were set to 40857589 Phenotypes for gene: CRNKL1 were set to intellectual disability; epilepsy; simplified gyration; microcephaly Penetrance for gene: CRNKL1 were set to Complete Mode of pathogenicity for gene: CRNKL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CRNKL1 was set to GREEN gene: CRNKL1 was marked as current diagnostic Added comment: 10 cases with de novo missenses variants PMID: 40857589. Phenotype : intellectual disability, microcephaly, simplified gyration, epilepsy. hypothesis : gain-of-function or dominant negative Sources: Literature |
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