FLT4 fms related tyrosine kinase 4
Gene info
Synonyms
VEGFR3, PCL
Previous symbol
None
External ID
HGNC: 3767
Entrez Gene: 2324
Ensembl: ENSG00000037280
UCSC: uc003mlz.4
OMIM:
136352
UniProtKB:
P35916
Disease info
Disease
None
CHD Phenotype
- Tetralogy of fallot
Extra Cardiac Phenotype
None
Incomplete penetrance
Yes
Variable expressivity
No
Animal model
Mouse study
Conditional null mice have cardiovascular defects.
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for FLT4: BED file
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Selected References
- 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
- 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