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| Lissencephaly and Band Heterotopia v0.61 | CSNK2A1 | Zornitza Stark Marked gene: CSNK2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.61 | CSNK2A1 | Zornitza Stark Gene: csnk2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.61 | CSNK2A1 | Zornitza Stark Classified gene: CSNK2A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.61 | CSNK2A1 | Zornitza Stark Gene: csnk2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.60 | CSNK2A1 |
Ain Roesley gene: CSNK2A1 was added gene: CSNK2A1 was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSNK2A1 were set to 27048600; 29240241 Phenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome (MIM#617062) Penetrance for gene: CSNK2A1 were set to unknown Review for gene: CSNK2A1 was set to AMBER Added comment: PMID: 27048600; - 5 unrelated patients - 1x pachygyria + 1x simplified gyral cortication PMID: 29240241; - summary of reports thus far, no additional patients with cortical malformations * all variants reported are de novo Sources: Literature |
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