PRKD1 protein kinase D1
PKCM, PKD, PKC-mu
- Atrioventricular septal defect
- Pulmonary atresia
- Truncus arteriosus
Extra Cardiac Phenotype
Mouse cardiac-specific conditionally null has CHD
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
No variant passing our criteria was found for PRKD1.
- Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Turki, S. H. A., … Singh, T. (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060–1065. DOI:10.1038/ng.3627
- Shaheen, R., Al Hashem, A., Alghamdi, M. H., Seidahmad, M. Z., Wakil, S. M., Dagriri, K., … Alkuraya, F. S. (2015). Positional mapping ofPRKD1,NRP1andPRDM1as novel candidate disease genes in truncus arteriosus. Journal of Medical Genetics, 52(5), 322–329. DOI:10.1136/jmedgenet-2015-102992 PMID:25713110