KDR kinase insert domain receptor

Gene info

Synonyms

vascular endothelial growth factor receptor 2|fetal liver kinase 1

Previous symbol

None

External ID

HGNC: 6307
Entrez Gene: 3791
Ensembl: ENSG00000128052
UCSC: uc003has.4
OMIM: 191306
UniProtKB: P35968

Disease info

Disease

None

CHD Phenotype

  • Tetralogy of fallot

Extra Cardiac Phenotype

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

96683

Variant info

Clinvar

KDR

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. Škorić-Milosavljević, D., Lahrouchi, N., Bosada, F. M., Dombrowsky, G., Williams, S. G., Lesurf, R., Tjong, F. V. Y., Walsh, R., El Bouchikhi, I., Breckpot, J., Audain, E., Ilgun, A., Beekman, L., Ratbi, I., Strong, A., Muenke, M., Heide, S., Muir, A. M., Hababa, M., … Bezzina, C. R. (2021). Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genetics in Medicine, 23(10), 1952–1960. https://doi.org/10.1038/s41436-021-01212-y DOI:10.1038/s41436-021-01212-y PMID:34113005
  2. Reuter, M. S., Chaturvedi, R. R., Jobling, R. K., Pellecchia, G., Hamdan, O., Sung, W. W. L., Nalpathamkalam, T., Attaluri, P., Silversides, C. K., Wald, R. M., Marshall, C. R., Williams, S. G., Keavney, B. D., Thiruvahindrapuram, B., Scherer, S. W., & Bassett, A. S. (2021). Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. Circulation: Genomic and Precision Medicine, 14(4). https://doi.org/10.1161/circgen.121.003410 DOI:10.1161/CIRCGEN.121.003410 PMID:34328347