PRKD1 protein kinase D1

Gene info

Synonyms

None

Previous symbol

PRKCM

External ID

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

Disease info

Disease

CHD Phenotype

  • Atrioventricular septal defect
  • Pulmonary atresia
  • Truncus arteriosus

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mouse cardiac-specific conditionally knockout has CHD

MGI ID

99879

Variant info

Clinvar

PRKD1

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

Genome browser powered by igv.js

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., … Hurles, M. E. (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