ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10

Gene info



Previous symbol


External ID

HGNC: 13201
Entrez Gene: 81794
Ensembl: ENSG00000142303
UCSC: uc002mkj.3
OMIM: 608990
UniProtKB: Q9H324

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Aortic stenosis
  • Pulmonic stenosis
  • Dysplastic valves

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


Variant info


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

Download annotation file for ADAMTS10: BED file

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Selected References

  1. Dagoneau, N., Benoist-Lasselin, C., Huber, C., Faivre, L., Mégarbané, A., Alswaid, A., Dollfus, H., Alembik, Y., Munnich, A., Legeai-Mallet, L., & 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 PMID:15368195
  2. Morales, J., Al-Sharif, L., Khalil, D. S., Shinwari, J. M. A., Bavi, P., Al-Mahrouqi, R. A., Al-Rajhi, A., Alkuraya, F. S., Meyer, B. F., & Al Tassan, N. (2009). Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature. The American Journal of Human Genetics, 85(5), 558–568. DOI:10.1016/j.ajhg.2009.09.011 PMID:19836009