ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10
- Ventricular septal defect
- Aortic stenosis
- Pulmonic stenosis
- Dysplastic valves
Extra Cardiac Phenotype
MGI: no cardiovascular defect recorded
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
No variant passing our criteria was found for ADAMTS10.
- Dagoneau, N., Benoist-Lasselin, C., Huber, C., Faivre, L., Mégarbané, A., Alswaid, A., … Cormier-Daire, V. (2004). ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome. The American Journal of Human Genetics, 75(5), 801–806. DOI:10.1086/425231