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Fetal anomalies v2.0 CDK8 Gene migrated from ENSG00000132964 to ENSG00000132964 (gene set migration)
Fetal anomalies v0.926 CDK8 Zornitza Stark Marked gene: CDK8 as ready
Fetal anomalies v0.926 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Fetal anomalies v0.926 CDK8 Zornitza Stark Classified gene: CDK8 as Green List (high evidence)
Fetal anomalies v0.926 CDK8 Zornitza Stark Gene: cdk8 has been classified as Green List (High Evidence).
Fetal anomalies v0.925 CDK8 Zornitza Stark gene: CDK8 was added
gene: CDK8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to Intellectual disability; dysmorphism; congenital abnormalities; seizures
Review for gene: CDK8 was set to GREEN
Added comment: 12 unrelated individuals, missense variants demonstrated as de novo in 10. All variants localize to the ATP-binding pocket of the kinase domain.
Sources: Literature