FLT4 fms related receptor tyrosine kinase 4

Gene info

Synonyms

vascular endothelial growth factor receptor 3|VEGF receptor-3|Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4|primary congenital lymphedema

Previous symbol

None

External ID

HGNC: 3767
Entrez Gene: 2324
Ensembl: ENSG00000037280
UCSC: uc003mlz.4
OMIM: 136352
UniProtKB: P35916

Disease info

Disease

CHD Phenotype

  • Tetralogy of fallot

Extra Cardiac Phenotype

None

Incomplete penetrance

Yes

Variable expressivity

No

Animal model

Mouse study

MGI: Conditional knockout mice have cardiovascular defects.

MGI ID

95561

Variant info

Clinvar

FLT4

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

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Selected References

  1. Jin, S. C., Homsy, J., Zaidi, S., Lu, Q., Morton, S., DePalma, S. R., Zeng, X., Qi, H., Chang, W., Sierant, M. C., Hung, W.-C., Haider, S., Zhang, J., Knight, J., Bjornson, R. D., Castaldi, C., Tikhonoa, I. R., Bilguvar, K., Mane, S. M., … Brueckner, M. (2017). Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics, 49(11), 1593–1601. https://doi.org/10.1038/ng.3970 DOI:10.1038/ng.3970 PMID:28991257
  2. Szot, J. O., Cuny, H., Blue, G. M., Humphreys, D. T., Ip, E., Harrison, K., Sholler, G. F., Giannoulatou, E., Leo, P., Duncan, E. L., Sparrow, D. B., Ho, J. W. K., Graham, R. M., Pachter, N., Chapman, G., Winlaw, D. S., & Dunwoodie, S. L. (2018). A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circulation: Genomic and Precision Medicine, 11(3). https://doi.org/10.1161/circgen.117.001978 DOI:10.1161/circgen.117.001978 PMID:29555671