ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10

Gene info

Synonyms

None

Previous symbol

None

External ID

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

Disease info

Disease

CHD Phenotype

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

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice

MGI ID

2449112

Variant info

Clinvar

ADAMTS10

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. 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. https://doi.org/10.1086/425231 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. https://doi.org/10.1016/j.ajhg.2009.09.011 DOI:10.1016/j.ajhg.2009.09.011 PMID:19836009