SPRED2 sprouty related EVH1 domain containing 2

Gene info

Synonyms

Spred-2, FLJ21897, FLJ31917

Previous symbol

None

External ID

HGNC: 17722
Entrez Gene: 200734
Ensembl: ENSG00000198369
UCSC: uc010fcw.4
OMIM: 609292
UniProtKB: Q7Z698

Disease info

Disease

None

CHD Phenotype

  • Pulmonic stenosis
  • Atrial septal defect

Extra Cardiac Phenotype

Developmental delay, intellectual disability, short stature, skeletal anomalies, and a typical facial gestalt

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

2150019

Variant info

Clinvar

SPRED2

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 SPRED2.

Selected References

  1. Motta, M., Fasano, G., Gredy, S., Brinkmann, J., Bonnard, A. A., Simsek-Kiper, P. O., Gulec, E. Y., Essaddam, L., Utine, G. E., Guarnetti Prandi, I., Venditti, M., Pantaleoni, F., Radio, F. C., Ciolfi, A., Petrini, S., Consoli, F., Vignal, C., Hepbasli, D., Ullrich, M., … Tartaglia, M. (2021). SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype. The American Journal of Human Genetics, 108(11), 2112–2129. https://doi.org/10.1016/j.ajhg.2021.09.007 DOI:10.1016/j.ajhg.2021.09.007 PMID:34626534