| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.139 | HNRNPK | Zornitza Stark Marked gene: HNRNPK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.139 | HNRNPK | Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.139 | HNRNPK | Zornitza Stark Classified gene: HNRNPK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.139 | HNRNPK | Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.138 | HNRNPK |
Ain Roesley gene: HNRNPK was added gene: HNRNPK was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580 Penetrance for gene: HNRNPK were set to Complete Review for gene: HNRNPK was set to GREEN gene: HNRNPK was marked as current diagnostic Added comment: Caused by de novo variants. Review of >20 individuals in GeneReviews: - Brain anomalies have been identified in several individuals. The most common abnormalities were heterotopia and thinning of the corpus callosum. - Congenital heart disease is present in approximately 75% of individuals with AKS - Hydronephrosis is present in up to 75% of individuals - Craniosynostosis is present in approximately 1/3 of individuals with AKS. - More than half of individuals with AKS have scoliosis and congenital hip dysplasia - Palate abnormalities, which include cleft palate, high-arched or narrow palate, and bifid uvula, are common. Sources: Literature |
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