PRKD1 protein kinase D1

Gene info

Disease info

Animal model

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

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. https://doi.org/10.1038/ng.3627 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. https://doi.org/10.1136/jmedgenet-2015-102992 DOI:10.1136/jmedgenet-2015-102992 PMID:25713110