PLD1 phospholipase 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

No variant passing our criteria was found for PLD1.

Selected References

1. Ta-Shma, A., Zhang, K., Salimova, E., Zernecke, A., Sieiro-Mosti, D., Stegner, D., Furtado, M., Shaag, A., Perles, Z., Nieswandt, B., Rein, A. J. J. T., Rosenthal, N., Neiman, A. M., & Elpeleg, O. (2016). Congenital valvular defects associated with deleterious mutations in thePLD1gene. Journal of Medical Genetics, 54(4), 278–286. https://doi.org/10.1136/jmedgenet-2016-104259 DOI:10.1136/jmedgenet-2016-104259 PMID:27799408
2. Lahrouchi, N., Postma, A. V., Salazar, C. M., De Laughter, D. M., Tjong, F., Piherová, L., Bowling, F. Z., Zimmerman, D., Lodder, E. M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Škorić-Milosavljević, D., Stránecký, V., Tomek, V., de Knijff, P., … Bezzina, C. R. (2021). Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy. Journal of Clinical Investigation, 131(5). https://doi.org/10.1172/jci142148 DOI:10.1172/JCI142148 PMID:33645542