PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting

Gene info

Synonyms

PRO19563

Previous symbol

None

External ID

HGNC: 18053
Entrez Gene: 168507
Ensembl: ENSG00000158683
UCSC: uc003tny.3
OMIM: 609721
UniProtKB: Q8TDX9

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Pulmonic stenosis
  • Double outlet right ventricle
  • Hypoplastic left heart syndrome
  • Dextrocardia
  • Main aortopulmonary collateral arteries

Extra Cardiac Phenotype

Situs inversus

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

Mice homozygous for an ENU induced point mutation have laterality defects

MGI ID

Variant info

Clinvar

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 PKD1L1: BED file

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Selected References

  1. Vetrini, F., D’Alessandro, L. C. A., Akdemir, Z. C., Braxton, A., Azamian, M. S., Eldomery, M. K., … Yang, Y. (2016). Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. The American Journal of Human Genetics, 99(4), 886–893. DOI:10.1016/j.ajhg.2016.07.011 PMID:27616478
  2. Le Fevre, A., Baptista, J., Ellard, S., Overton, T., Oliver, A., Gradhand, E., & Scurr, I. (2020). Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd. European Journal of Medical Genetics, 63(2), 103657. DOI:10.1016/j.ejmg.2019.04.014 PMID:31026592
  3. Jin, S. C., Homsy, J., Zaidi, S., Lu, Q., Morton, S., DePalma, S. R., … Brueckner, M. (2017). Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics, 49(11), 1593–1601. DOI:10.1038/ng.3970 PMID:28991257
  4. Rodriguez, S., Chaturvedi, R., Blanchette, V., Dell, S., Axford, M., Cada, M., & Dror, Y. (2019). PKD1L1‐related situs inversus associated with sideroblastic anemia. Clinical Genetics, 95(5), 629–630. DOI:10.1111/cge.13512