PRKD1 protein kinase D1

Gene info



Previous symbol


External ID

HGNC: 9407
Entrez Gene: 5587
Ensembl: ENSG00000184304
UCSC: uc001wqh.4
OMIM: 605435
UniProtKB: Q15139

Disease info

CHD Phenotype

  • Atrioventricular septal defect
  • Pulmonary atresia
  • Truncus arteriosus

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mouse cardiac-specific conditionally knockout has CHD


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for PRKD1: BED file

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Selected References

  1. Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Turki, S. H. A., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., Abdul-Khaliq, H., Banka, S., Bauer, U. M. M., Bentham, J., Berger, F., … Bhattacharya, S. (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 PMID:27479907
  2. Shaheen, R., Al Hashem, A., Alghamdi, M. H., Seidahmad, M. Z., Wakil, S. M., Dagriri, K., Keavney, B., Goodship, J., Alyousif, S., Al-Habshan, F. M., Alhussein, K., Almoisheer, A., Ibrahim, N., & 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